#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_ORegAnno_bin	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
ABCA10	10349	genome.wustl.edu	37	17	67212118	67212118	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr17:67212118A>T	ENST00000269081.4	-	9	1605	c.696T>A	c.(694-696)agT>agA	p.S232R	ABCA10_ENST00000416101.2_Missense_Mutation_p.S232R|ABCA10_ENST00000432313.2_Missense_Mutation_p.S232R	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	232					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S232R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTATTAAAACACTCATGAGGA	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	67.0	66.0					17																	67212118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.696T>A	17.37:g.67212118A>T	ENSP00000269081:p.Ser232Arg		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S232R	ENST00000269081.4	37	c.696	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828767	0.50845	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.93763	-3.28;-3.28;-3.28	3.21	-4.94	0.03057	.	0.430727	0.16214	U	0.224337	D	0.95595	0.8568	M	0.84948	2.725	0.09310	N	0.999991	D;P	0.76494	0.999;0.921	D;P	0.76575	0.988;0.803	D	0.91721	0.5389	10	0.87932	D	0	.	11.0854	0.48084	0.8305:0.0:0.1695:0.0	.	232;232	E5RFP5;Q8WWZ4	.;ABCAA_HUMAN	R	232	ENSP00000269081:S232R;ENSP00000407772:S232R;ENSP00000387674:S232R	ENSP00000269081:S232R	S	-	3	2	ABCA10	64723713	0.000000	0.05858	0.132000	0.22025	0.893000	0.52053	-1.273000	0.02823	-0.964000	0.03595	-0.439000	0.05793	AGT	ABCA10	-	NULL	ENSG00000154263		0.373	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	61	0.00	0	A	NM_080282		67212118	67212118	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	63	19.23	15	SNP	0.008	T
ABCA13	154664	genome.wustl.edu	37	7	48545981	48545981	+	Silent	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:48545981C>T	ENST00000435803.1	+	49	13365	c.13341C>T	c.(13339-13341)gaC>gaT	p.D4447D	ABCA13_ENST00000544596.1_Silent_p.D177D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4447					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D4392D(1)|p.D4447D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAACAAGGACAAGATGTGAG	0.458																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											128.0	133.0	131.0					7																	48545981		2121	4231	6352	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13341C>T	7.37:g.48545981C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q713*	ENST00000435803.1	37	c.2137	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	306	0.33	1	C	NM_152701		48545981	48545981	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453246	ensembl	human	known	69_37n	nonsense	286	37.47	172	SNP	1.000	T
AKAP9	10142	genome.wustl.edu	37	7	91630767	91630767	+	Silent	SNP	C	C	G	rs61757665	byFrequency	TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:91630767C>G	ENST00000359028.2	+	9	1797	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	AKAP9_ENST00000356239.3_Silent_p.L512L|AKAP9_ENST00000358100.2_Silent_p.L524L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	524	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L524L(1)|p.L512L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAAAAACTCAAGGAAGAAC	0.323			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - coding silent(2)	breast(2)											59.0	66.0	64.0					7																	91630767		2199	4298	6497	-	-	-	SO:0001819	synonymous_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1572C>G	7.37:g.91630767C>G			A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.L524	ENST00000359028.2	37	c.1572		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.323	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		47	0.00	0	C	NM_005751		91630767	91630767	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	0.974	G
AOX1	316	genome.wustl.edu	37	2	201523930	201523930	+	Silent	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:201523930C>T	ENST00000374700.2	+	28	3455	c.3214C>T	c.(3214-3216)Ctg>Ttg	p.L1072L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1072					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L1072L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGTCCACCTGCGTGGAAC	0.448																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											138.0	126.0	130.0					2																	201523930		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3214C>T	2.37:g.201523930C>T			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.L1072	ENST00000374700.2	37	c.3214	CCDS33360.1	2																																																																																			AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.448	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	172	0.00	0	C	NM_001159		201523930	201523930	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	silent	155	12.85	23	SNP	1.000	T
ATP5F1	515	genome.wustl.edu	37	1	111999346	111999346	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:111999346A>G	ENST00000369722.3	+	5	1088	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	ATP5F1_ENST00000483994.1_Missense_Mutation_p.Q100R|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	161					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.Q161R(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCACTGGTTCAGAAGCGCCAT	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											118.0	110.0	113.0					1																	111999346		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.482A>G	1.37:g.111999346A>G	ENSP00000358737:p.Gln161Arg		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.Q161R	ENST00000369722.3	37	c.482	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939779	0.52972	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.28895	1.59;1.64	5.22	3.91	0.45181	.	0.194046	0.53938	D	0.000055	T	0.18800	0.0451	M	0.71581	2.175	0.30864	N	0.733151	B;B	0.28291	0.206;0.206	B;B	0.31191	0.125;0.125	T	0.11518	-1.0584	10	0.59425	D	0.04	.	9.7079	0.40227	0.8808:0.0:0.1192:0.0	.	161;161	Q08ET0;P24539	.;AT5F1_HUMAN	R	161;100	ENSP00000358737:Q161R;ENSP00000420366:Q100R	ENSP00000358737:Q161R	Q	+	2	0	ATP5F1	111800869	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	3.532000	0.53553	2.103000	0.63969	0.533000	0.62120	CAG	ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt	ENSG00000116459		0.403	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	102	0.00	0	A	NM_001688		111999346	111999346	+1	no_errors	ENST00000369722	ensembl	human	known	69_37n	missense	43	22.81	13	SNP	1.000	G
ATRX	546	genome.wustl.edu	37	X	76937079	76937079	+	Silent	SNP	T	T	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chrX:76937079T>C	ENST00000373344.5	-	9	3883	c.3669A>G	c.(3667-3669)gaA>gaG	p.E1223E	ATRX_ENST00000395603.3_Silent_p.E1185E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1223	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E1223E(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAATTTTCTGTTCATCGCTGC	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - coding silent(2)|Unknown(1)	breast(2)|bone(1)											134.0	118.0	123.0					X																	76937079		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3669A>G	X.37:g.76937079T>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1223	ENST00000373344.5	37	c.3669	CCDS14434.1	X																																																																																			ATRX	-	NULL	ENSG00000085224		0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	210	0.00	0	T	NM_000489		76937079	76937079	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	silent	125	23.31	38	SNP	0.992	C
C16orf96	342346	genome.wustl.edu	37	16	4624728	4624728	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr16:4624728G>T	ENST00000444310.4	+	3	544	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96									p.D182Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						AGAAAGAATGGACATCTTTGC	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	80.0	80.0					16																	4624728		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.544G>T	16.37:g.4624728G>T	ENSP00000415027:p.Asp182Tyr			Missense_Mutation	SNP	NULL	p.D182Y	ENST00000444310.4	37	c.544	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205594	0.22205	.	.	ENSG00000205832	ENST00000444310	T	0.24151	1.87	5.0	0.892	0.19230	.	0.599489	0.14806	N	0.297341	T	0.29288	0.0729	L	0.44542	1.39	0.09310	N	1	D	0.54207	0.965	P	0.53593	0.73	T	0.09015	-1.0694	10	0.87932	D	0	-5.2659	6.5608	0.22485	0.3876:0.0:0.6124:0.0	.	182	A6NNT2	CP096_HUMAN	Y	182	ENSP00000415027:D182Y	ENSP00000415027:D182Y	D	+	1	0	C16orf96	4564729	0.025000	0.19082	0.000000	0.03702	0.001000	0.01503	1.278000	0.33179	0.366000	0.24427	-0.251000	0.11542	GAC	C16orf96	-	NULL	ENSG00000205832		0.547	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	49	0.00	0	G	NM_001145011		4624728	4624728	+1	no_errors	ENST00000444310	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.000	T
C1orf122	127687	genome.wustl.edu	37	1	38274673	38274674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:38274673_38274674insC	ENST00000373042.4	+	3	520_521	c.261_262insC	c.(262-264)cccfs	p.P88fs	YRDC_ENST00000373044.2_5'Flank|C1orf122_ENST00000468084.1_Frame_Shift_Ins_p.P25fs|C1orf122_ENST00000373043.1_Frame_Shift_Ins_p.P25fs|C1orf122_ENST00000446260.2_Frame_Shift_Ins_p.RP116fs			Q6ZSJ8	CA122_HUMAN	chromosome 1 open reading frame 122	88										kidney(2)|lung(2)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0393)				AACCTGGAGCGCCCCCCCAGCC	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK127381	CCDS427.2, CCDS44112.1	1p34.3	2008-02-05		2005-08-09	ENSG00000197982	ENSG00000197982			24789	protein-coding gene	gene with protein product						12477932	Standard	NM_198446		Approved	FLJ45459	uc001ccd.2	Q6ZSJ8	OTTHUMG00000004319	ENST00000373042.4:c.268dupC	1.37:g.38274680_38274680dupC	ENSP00000362133:p.Pro88fs		A2RQF4|E9PQ13|Q56A71	Frame_Shift_Ins	INS	NULL	p.S119fs	ENST00000373042.4	37	c.347_348	CCDS427.2	1																																																																																			C1orf122	-	NULL	ENSG00000197982		0.589	C1orf122-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf122	HGNC	protein_coding	OTTHUMT00000012471.2	18	0.00	0	-	NM_198446		38274673	38274674	+1	no_errors	ENST00000446260	ensembl	human	known	69_37n	frame_shift_ins	3	50.00	3	INS	0.772:0.677	C
C1orf116	79098	genome.wustl.edu	37	1	207195327	207195327	+	Silent	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:207195327C>T	ENST00000359470.5	-	4	2031	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	C1orf116_ENST00000461135.2_Silent_p.K348K	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	594						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.K594K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GTCCCAGCTTCTTCAGGGCCT	0.562																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											108.0	102.0	104.0					1																	207195327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1782G>A	1.37:g.207195327C>T			C9JV41|Q658X3	Silent	SNP	NULL	p.K594	ENST00000359470.5	37	c.1782	CCDS1475.1	1																																																																																			C1orf116	-	NULL	ENSG00000182795		0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	175	0.00	0	C	NM_024115		207195327	207195327	-1	no_errors	ENST00000359470	ensembl	human	known	69_37n	silent	96	24.41	31	SNP	1.000	T
CFAP61	26074	genome.wustl.edu	37	20	20054946	20054946	+	Splice_Site	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr20:20054946C>A	ENST00000245957.5	+	4	371	c.295C>A	c.(295-297)Ccc>Acc	p.P99T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Splice_Site_p.P99T|C20orf26_ENST00000377306.1_Splice_Site_p.P99T|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		99								p.P99T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCTTCTGCAGCCCCTGAATAC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											243.0	196.0	212.0					20																	20054946		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000245957.5:c.295-1C>A	20.37:g.20054946C>A			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.P99T	ENST00000245957.5	37	c.295	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314692	0.81358	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.998	T	0.75684	-0.3232	9	.	.	.	.	14.8243	0.70097	0.0:1.0:0.0:0.0	.	99;99;53;99	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	T	53;99;99;99;99;99;99;99	ENSP00000345553:P53T;ENSP00000245957:P99T;ENSP00000366521:P99T;ENSP00000366518:P99T;ENSP00000417086:P99T;ENSP00000414537:P99T	.	P	+	1	0	C20orf26	20002946	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.581000	0.60949	2.559000	0.86315	0.655000	0.94253	CCC	C20orf26	-	NULL	ENSG00000089101		0.512	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	242	0.00	0	C		Missense_Mutation	20054946	20054946	+1	no_errors	ENST00000245957	ensembl	human	known	69_37n	missense	150	45.85	127	SNP	1.000	A
TMEM261	90871	genome.wustl.edu	37	9	7799564	7799564	+	Silent	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr9:7799564C>A	ENST00000358227.4	-	1	503	c.171G>T	c.(169-171)ggG>ggT	p.G57G	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	57						integral component of membrane (GO:0016021)											CCCCCATCAGCCCCAACCCAG	0.647																																						dbGAP											0													37.0	39.0	39.0					9																	7799564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 123"""	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.171G>T	9.37:g.7799564C>A			A8K9B7|Q5T6Y9|Q9NT74	Silent	SNP	NULL	p.G57	ENST00000358227.4	37	c.171	CCDS34989.1	9																																																																																			C9orf123	-	NULL	ENSG00000137038		0.647	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf123	HGNC	protein_coding	OTTHUMT00000051705.1	59	0.00	0	C	NM_033428		7799564	7799564	-1	no_errors	ENST00000358227	ensembl	human	known	69_37n	silent	32	17.95	7	SNP	0.927	A
CACHD1	57685	genome.wustl.edu	37	1	65129390	65129390	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:65129390T>G	ENST00000371073.2	+	14	1964	c.1964T>G	c.(1963-1965)aTc>aGc	p.I655S	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.I604S			Q5VU97	CAHD1_HUMAN	cache domain containing 1	655					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGTCCCACCATCATGCTGTCT	0.532																																						dbGAP											0													193.0	197.0	196.0					1																	65129390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1964T>G	1.37:g.65129390T>G	ENSP00000360113:p.Ile655Ser		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.I655S	ENST00000371073.2	37	c.1964		1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496702	0.64186	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24151	1.87;1.87	5.92	5.92	0.95590	.	0.110120	0.64402	D	0.000009	T	0.10680	0.0261	N	0.24115	0.695	0.36469	D	0.867131	B	0.17667	0.023	B	0.20384	0.029	T	0.05971	-1.0853	10	0.42905	T	0.14	-17.1844	16.3574	0.83241	0.0:0.0:0.0:1.0	.	655	Q5VU97	CAHD1_HUMAN	S	655;604	ENSP00000360113:I655S;ENSP00000290039:I604S	ENSP00000290039:I604S	I	+	2	0	CACHD1	64901978	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	7.665000	0.83852	2.270000	0.75569	0.477000	0.44152	ATC	CACHD1	-	NULL	ENSG00000158966		0.532	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		117	0.00	0	T	NM_020925		65129390	65129390	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	missense	128	13.51	20	SNP	1.000	G
CALD1	800	genome.wustl.edu	37	7	134618765	134618765	+	Silent	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:134618765G>A	ENST00000361675.2	+	5	1474	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	415					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.G415G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAATAGAAGGGAAATGGGTAA	0.383																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											111.0	117.0	115.0					7																	134618765		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1245G>A	7.37:g.134618765G>A			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.G415	ENST00000361675.2	37	c.1245	CCDS5835.1	7																																																																																			CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.383	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	816	0.00	0	G	NM_033138		134618765	134618765	+1	no_errors	ENST00000361675	ensembl	human	novel	69_37n	silent	810	22.09	230	SNP	0.983	A
CASQ2	845	genome.wustl.edu	37	1	116280859	116280859	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:116280859C>T	ENST00000261448.5	-	4	757	c.518G>A	c.(517-519)aGt>aAt	p.S173N	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	173					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.S173N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAGTCCTCACTCTTGAAAAA	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											205.0	180.0	189.0					1																	116280859		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.518G>A	1.37:g.116280859C>T	ENSP00000261448:p.Ser173Asn		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.S173N	ENST00000261448.5	37	c.518	CCDS884.1	1	.	.	.	.	.	.	.	.	.	.	C	7.189	0.591081	0.13812	.	.	ENSG00000118729	ENST00000261448;ENST00000446755	T	0.77489	-1.1	6.03	3.08	0.35506	Thioredoxin-like fold (2);	0.170119	0.64402	N	0.000004	T	0.44664	0.1304	L	0.31664	0.95	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35276	-0.9795	10	0.21540	T	0.41	-7.3512	7.7371	0.28821	0.0:0.7203:0.1322:0.1475	.	173	O14958	CASQ2_HUMAN	N	173	ENSP00000261448:S173N	ENSP00000261448:S173N	S	-	2	0	CASQ2	116082382	0.978000	0.34361	0.851000	0.33527	0.691000	0.40173	0.907000	0.28531	0.843000	0.35070	0.655000	0.94253	AGT	CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.458	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	211	0.00	0	C	NM_001232		116280859	116280859	-1	no_errors	ENST00000261448	ensembl	human	known	69_37n	missense	193	14.60	33	SNP	0.968	T
CDH26	60437	genome.wustl.edu	37	20	58564054	58564054	+	Silent	SNP	G	G	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr20:58564054G>T	ENST00000244047.5	+	9	1430	c.1119G>T	c.(1117-1119)ccG>ccT	p.P373P	CDH26_ENST00000348616.4_Silent_p.P373P			Q8IXH8	CAD26_HUMAN	cadherin 26	373	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P373P(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AGCTTCAGCCGCCAAGGAAGG	0.557																																						dbGAP											4	Substitution - coding silent(4)	large_intestine(2)|breast(2)											72.0	82.0	79.0					20																	58564054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1119G>T	20.37:g.58564054G>T			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P373	ENST00000244047.5	37	c.1119		20																																																																																			CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.557	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		145	0.00	0	G	NM_177980		58564054	58564054	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	silent	146	16.38	29	SNP	0.000	T
CHURC1	91612	genome.wustl.edu	37	14	65381251	65381251	+	Splice_Site	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr14:65381251G>A	ENST00000549115.1	+	1	173	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	CHURC1_ENST00000607599.1_Splice_Site_p.R40Q|CHURC1_ENST00000359118.2_Splice_Site_p.R13Q|CHURC1_ENST00000548752.2_Splice_Site_p.R40Q|FNTB_ENST00000447296.2_Splice_Site_p.R13Q|CHURC1_ENST00000552002.2_Splice_Site_p.R13Q|FNTB_ENST00000542227.1_5'UTR|CHURC1-FNTB_ENST00000549987.1_Splice_Site_p.R14Q			Q8WUH1	CHUR_HUMAN	churchill domain containing 1	40					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)	p.R13Q(1)		breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		TATCCCAACCGGGTGAGCGAC	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	117.0	120.0					14																	65381251		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF060510	CCDS32101.1, CCDS32101.2, CCDS55921.1, CCDS55922.1	14q23.3	2011-09-28	2004-05-05	2004-05-07	ENSG00000258289	ENSG00000258289			20099	protein-coding gene	gene with protein product		608577		C14orf52			Standard	NM_145165		Approved	My015, FLJ33064		Q8WUH1	OTTHUMG00000170218	ENST00000549115.1:c.120+1G>A	14.37:g.65381251G>A			B3KQ81|G3V1X3|G3V214|Q9H3K7	Missense_Mutation	SNP	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.R13Q	ENST00000549115.1	37	c.38	CCDS55921.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.641278|4.641278	0.87859|0.87859	.|.	.|.	ENSG00000258289|ENSG00000258289;ENSG00000258289;ENSG00000258289;ENSG00000258289;ENSG00000125954;ENSG00000125954	ENST00000551947|ENST00000552002;ENST00000549115;ENST00000548752;ENST00000359118;ENST00000549987;ENST00000447296	.|.	.|.	.|.	5.3|5.3	4.4|4.4	0.53042|0.53042	.|.	.|0.060187	.|0.64402	.|D	.|0.000004	T|T	0.52629|0.52629	0.1746|0.1746	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|B;B;B;P	.|0.38148	.|0.016;0.06;0.041;0.62	.|B;B;B;B	.|0.24269	.|0.002;0.009;0.017;0.052	T|T	0.60782|0.60782	-0.7195|-0.7195	5|9	.|0.72032	.|D	.|0.01	.|.	11.6751|11.6751	0.51425|0.51425	0.0844:0.0:0.9156:0.0|0.0844:0.0:0.9156:0.0	.|.	.|13;13;13;40	.|B4DL54;B7Z3N2;Q8WUH1;G3V214	.|.;.;CHUR_HUMAN;.	R|Q	31|40;40;40;13;14;13	.|.	.|ENSP00000352026:R13Q	G|R	+|+	1|2	0|0	CHURC1|FNTB;CHURC1	64451004|64451004	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.489000|0.489000	0.33432|0.33432	4.934000|4.934000	0.63491|0.63491	1.365000|1.365000	0.46057|0.46057	0.655000|0.655000	0.94253|0.94253	GGG|CGG	CHURC1-FNTB	-	pfam_Transcrpt_activator_Churchill	ENSG00000125954		0.642	CHURC1-002	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	CHURC1-FNTB	HGNC	protein_coding	OTTHUMT00000408062.1	85	0.00	0	G	NM_145165	Missense_Mutation	65381251	65381251	+1	no_errors	ENST00000447296	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	1.000	A
CLDN12	9069	genome.wustl.edu	37	7	90042574	90042574	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:90042574G>C	ENST00000287916.4	+	3	871	c.584G>C	c.(583-585)tGg>tCg	p.W195S	CLDN12_ENST00000535571.1_Missense_Mutation_p.W195S|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.W195S	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	195					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.W195S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTATTTATTTGGTATTGTACA	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											194.0	190.0	191.0					7																	90042574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.584G>C	7.37:g.90042574G>C	ENSP00000287916:p.Trp195Ser		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	prints_Claudin12	p.W195S	ENST00000287916.4	37	c.584	CCDS5618.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067935	0.76301	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70450	-0.4868	10	0.10377	T	0.69	-8.4173	19.4782	0.94998	0.0:0.0:1.0:0.0	.	195	P56749	CLD12_HUMAN	S	195	ENSP00000419053:W195S;ENSP00000287916:W195S;ENSP00000443476:W195S;ENSP00000378103:W195S	ENSP00000287916:W195S	W	+	2	0	CLDN12	89880510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.115000	0.94336	2.838000	0.97847	0.655000	0.94253	TGG	CLDN12	-	NULL	ENSG00000157224		0.423	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN12	HGNC	protein_coding	OTTHUMT00000059221.1	109	0.91	1	G	NM_012129		90042574	90042574	+1	no_errors	ENST00000287916	ensembl	human	known	69_37n	missense	56	35.63	31	SNP	1.000	C
CLIC2	1193	genome.wustl.edu	37	X	154528458	154528458	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chrX:154528458C>T	ENST00000369449.2	-	2	276	c.58G>A	c.(58-60)Gct>Act	p.A20T	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	20	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)	p.A20T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCACTTCCAGCCTATTAAGAT	0.378																																					Melanoma(108;581 1592 2289 21669 28822)	dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	73.0	75.0					X																	154528458		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.58-1G>A	X.37:g.154528458C>T			A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.A20T	ENST00000369449.2	37	c.58	CCDS14767.1	X	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325680	0.60743	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	T;T	0.53857	0.6;0.6	4.92	4.92	0.64577	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.982;0.991	D	0.84286	0.0497	10	0.87932	D	0	-9.4749	14.8655	0.70412	0.0:1.0:0.0:0.0	.	38;20	Q86YM0;O15247	.;CLIC2_HUMAN	T	20	ENSP00000358460:A20T;ENSP00000318558:A20T	ENSP00000318558:A20T	A	-	1	0	CLIC2	154181652	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.122000	0.77169	2.182000	0.69389	0.506000	0.49869	GCT	CLIC2	-	superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel	ENSG00000155962		0.378	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC2	HGNC	protein_coding	OTTHUMT00000058793.1	299	0.00	0	C	NM_001289	Missense_Mutation	154528458	154528458	-1	no_errors	ENST00000369449	ensembl	human	known	69_37n	missense	280	10.26	32	SNP	1.000	T
CNTLN	54875	genome.wustl.edu	37	9	17235755	17235755	+	Missense_Mutation	SNP	G	G	C	rs201402782		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr9:17235755G>C	ENST00000380647.3	+	4	718	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	CNTLN_ENST00000425824.1_Missense_Mutation_p.E212Q|CNTLN_ENST00000380641.4_Missense_Mutation_p.E212Q|CNTLN_ENST00000262360.5_Missense_Mutation_p.E212Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	212					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E212Q(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGTGACTTGGAGAAGAAATT	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16596	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											118.0	117.0	117.0					9																	17235755		1828	4082	5910	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.634G>C	9.37:g.17235755G>C	ENSP00000370021:p.Glu212Gln		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E212Q	ENST00000380647.3	37	c.634	CCDS43789.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.042	-1.281975	0.01398	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.42	3.59	0.41128	.	.	.	.	.	T	0.01592	0.0051	N	0.00197	-1.87	0.22745	N	0.998787	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.44314	-0.9336	9	0.13470	T	0.59	.	10.3093	0.43699	0.2465:0.6102:0.1433:0.0	.	212;212;212	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	Q	212	ENSP00000370021:E212Q;ENSP00000392798:E212Q;ENSP00000262360:E212Q;ENSP00000370015:E212Q	ENSP00000262360:E212Q	E	+	1	0	CNTLN	17225755	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.504000	0.45416	0.779000	0.33543	-0.145000	0.13849	GAG	CNTLN	-	superfamily_Prefoldin	ENSG00000044459		0.338	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	320	0.00	0	G	NM_017738		17235755	17235755	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	140	28.93	57	SNP	1.000	C
COMP	1311	genome.wustl.edu	37	19	18902064	18902064	+	Silent	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr19:18902064G>C	ENST00000222271.2	-	1	59	c.15C>G	c.(13-15)acC>acG	p.T5T	COMP_ENST00000425807.1_Silent_p.T5T|COMP_ENST00000542601.2_5'UTR	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	5					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.T5T(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAACGCAGGCGGTGTCGGGGA	0.726																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											29.0	41.0	37.0					19																	18902064		2186	4283	6469	-	-	-	SO:0001819	synonymous_variant	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.15C>G	19.37:g.18902064G>C			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.T5	ENST00000222271.2	37	c.15	CCDS12385.1	19																																																																																			COMP	-	NULL	ENSG00000105664		0.726	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	60	0.00	0	G	NM_000095		18902064	18902064	-1	no_errors	ENST00000222271	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.938	C
CREB3L1	90993	genome.wustl.edu	37	11	46332608	46332609	+	Frame_Shift_Ins	INS	-	-	C	rs375485514		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr11:46332608_46332609insC	ENST00000529193.1	+	5	1072_1073	c.621_622insC	c.(622-624)cccfs	p.P208fs	CREB3L1_ENST00000288400.3_Frame_Shift_Ins_p.P208fs			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	208					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGCCTCCGACGCCCCCCAGCAG	0.649			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	dbGAP		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.627dupC	11.37:g.46332614_46332614dupC	ENSP00000434939:p.Pro208fs		Q8N2D5|Q96CP0	Frame_Shift_Ins	INS	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.S209fs	ENST00000529193.1	37	c.621_622	CCDS53620.1	11																																																																																			CREB3L1	-	NULL	ENSG00000157613		0.649	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	29	0.00	0	-	NM_052854		46332608	46332609	+1	no_errors	ENST00000288400	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	0.542:1.000	C
CSMD1	64478	genome.wustl.edu	37	8	2818711	2818711	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr8:2818711G>T	ENST00000520002.1	-	63	10212	c.9657C>A	c.(9655-9657)gaC>gaA	p.D3219E	CSMD1_ENST00000602723.1_Missense_Mutation_p.D3042E|CSMD1_ENST00000400186.3_Missense_Mutation_p.D3042E|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3041E|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3219E|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3218E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3219	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.D2947E(1)|p.D3218E(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTACCAGGGTCTGGGCAGG	0.348																																						dbGAP											2	Substitution - Missense(2)	breast(2)											73.0	71.0	71.0					8																	2818711		1840	4105	5945	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9657C>A	8.37:g.2818711G>T	ENSP00000430733:p.Asp3219Glu		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D3219E	ENST00000520002.1	37	c.9657		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.077931|2.077931	0.36662|0.36662	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08|.	5.81|5.81	1.54|1.54	0.23209|0.23209	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60715|0.60715	0.2290|0.2290	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.997|.	D;D;D|.	0.79108|.	0.992;0.983;0.992|.	T|T	0.56426|0.56426	-0.7981|-0.7981	10|5	0.27082|.	T|.	0.32|.	.|.	10.7993|10.7993	0.46478|0.46478	0.3284:0.0:0.6716:0.0|0.3284:0.0:0.6716:0.0	.|.	3219;3219;3041|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	E|T	3042;3219;3080;3218;3041|2636	ENSP00000383047:D3042E;ENSP00000430733:D3219E;ENSP00000441462:D3218E;ENSP00000446243:D3041E|.	ENSP00000320445:D3080E|.	D|P	-|-	3|1	2|0	CSMD1|CSMD1	2806118|2806118	0.980000|0.980000	0.34600|0.34600	0.999000|0.999000	0.59377|0.59377	0.641000|0.641000	0.38312|0.38312	0.083000|0.083000	0.14871|0.14871	0.396000|0.396000	0.25283|0.25283	-0.142000|-0.142000	0.14014|0.14014	GAC|CCC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	116	0.00	0	G	NM_033225		2818711	2818711	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	T
CYP3A7	1551	genome.wustl.edu	37	7	99306819	99306819	+	Silent	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:99306819G>C	ENST00000336374.2	-	11	1094	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	364					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.L364L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GGAATAATCTGAGTGTTTCAT	0.408																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											150.0	136.0	141.0					7																	99306819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1092C>G	7.37:g.99306819G>C			A4D288|Q9H241	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.L364	ENST00000336374.2	37	c.1092	CCDS5673.1	7																																																																																			CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	ENSG00000160870		0.408	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	546	0.00	0	G			99306819	99306819	-1	no_errors	ENST00000336374	ensembl	human	known	69_37n	silent	237	20.74	62	SNP	0.995	C
DHX15	1665	genome.wustl.edu	37	4	24529618	24529618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr4:24529618G>A	ENST00000336812.4	-	14	2473	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	773					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.Q773*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GCTTCACACTGTGGGAAATTG	0.378																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											147.0	133.0	137.0					4																	24529618		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.2317C>T	4.37:g.24529618G>A	ENSP00000336741:p.Gln773*		Q9NQT7	Nonsense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q773*	ENST00000336812.4	37	c.2317	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	G	40	7.933203	0.98568	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8404	20.452	0.99131	0.0:0.0:1.0:0.0	.	.	.	.	X	773;762	.	ENSP00000336741:Q773X	Q	-	1	0	DHX15	24138716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.838000	0.97847	0.591000	0.81541	CAG	DHX15	-	NULL	ENSG00000109606		0.378	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	247	0.40	1	G	NM_001358		24529618	24529618	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	nonsense	98	28.37	40	SNP	1.000	A
DLD	1738	genome.wustl.edu	37	7	107533688	107533688	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:107533688C>T	ENST00000205402.5	+	2	364	c.83C>T	c.(82-84)tCt>tTt	p.S28F	DLD_ENST00000440410.1_Missense_Mutation_p.S28F|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_5'UTR|DLD_ENST00000437604.2_Missense_Mutation_p.S28F	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	28					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.S28F(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	CAGGGACTTTCTGCAGTGCCT	0.358																																						dbGAP											2	Substitution - Missense(2)	breast(2)											112.0	108.0	109.0					7																	107533688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.83C>T	7.37:g.107533688C>T	ENSP00000205402:p.Ser28Phe		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.S28F	ENST00000205402.5	37	c.83	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598590	0.46318	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000440410;ENST00000437604	T;T;T;T	0.69306	-0.39;-0.39;-0.33;-0.39	5.03	4.13	0.48395	.	0.476727	0.22296	N	0.061936	T	0.40119	0.1104	N	0.08118	0	0.40796	D	0.983295	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.31558	-0.9939	10	0.09590	T	0.72	-18.2472	9.3146	0.37926	0.0:0.8333:0.0:0.1667	.	28;28;28	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	F	28	ENSP00000205402:S28F;ENSP00000390667:S28F;ENSP00000417016:S28F;ENSP00000387542:S28F	ENSP00000205402:S28F	S	+	2	0	DLD	107320924	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.049000	0.30392	2.604000	0.88044	0.467000	0.42956	TCT	DLD	-	NULL	ENSG00000091140		0.358	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	184	0.00	0	C	NM_000108		107533688	107533688	+1	no_errors	ENST00000205402	ensembl	human	known	69_37n	missense	117	15.83	22	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56473517	56473517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr6:56473517delA	ENST00000361203.3	-	36	5283	c.5276delT	c.(5275-5277)ttafs	p.L1759fs	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Frame_Shift_Del_p.L1937fs|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Frame_Shift_Del_p.L1433fs|DST_ENST00000370769.4_Frame_Shift_Del_p.L1759fs|DST_ENST00000312431.6_Frame_Shift_Del_p.L1759fs			Q03001	DYST_HUMAN	dystonin	1759					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTGCTCTTAAAATGCTTAT	0.413																																						dbGAP											0													64.0	61.0	62.0					6																	56473517		1878	4113	5991	-	-	-	SO:0001589	frameshift_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5276delT	6.37:g.56473517delA	ENSP00000354508:p.Leu1759fs		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L1937fs	ENST00000361203.3	37	c.5810		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat	ENSG00000151914		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	142	0.00	0	A	NM_001723		56473517	56473517	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	frame_shift_del	107	23.40	33	DEL	1.000	-
ENPP1	5167	genome.wustl.edu	37	6	132207728	132207728	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr6:132207728A>C	ENST00000360971.2	+	24	2491	c.2471A>C	c.(2470-2472)gAa>gCa	p.E824A		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	824	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.E772A(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CGTAACCAAGAAATTTTGATT	0.333																																					Colon(104;336 1535 5856 11019 33782)	dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	65.0	66.0					6																	132207728		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2471A>C	6.37:g.132207728A>C	ENSP00000354238:p.Glu824Ala		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E824A	ENST00000360971.2	37	c.2471	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888317	0.52014	.	.	ENSG00000197594	ENST00000360971	T	0.70045	-0.45	6.07	6.07	0.98685	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.060852	0.64402	D	0.000004	T	0.54935	0.1889	M	0.66939	2.045	0.49582	D	0.999802	B	0.28470	0.213	B	0.30401	0.115	T	0.57802	-0.7748	10	0.38643	T	0.18	-28.1418	14.8705	0.70453	1.0:0.0:0.0:0.0	.	824	P22413	ENPP1_HUMAN	A	824	ENSP00000354238:E824A	ENSP00000354238:E824A	E	+	2	0	ENPP1	132249421	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	4.658000	0.61497	2.326000	0.78906	0.533000	0.62120	GAA	ENPP1	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000197594		0.333	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	177	0.00	0	A			132207728	132207728	+1	no_errors	ENST00000360971	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	0.999	C
ERCC5	2073	genome.wustl.edu	37	13	103514800	103514800	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr13:103514800T>C	ENST00000355739.4	+	8	2724	c.1301T>C	c.(1300-1302)gTg>gCg	p.V434A	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Silent_p.S859S	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	434					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.V434A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGACTTAAAGTGAGAGATGGA	0.502			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	1	Substitution - Missense(1)	breast(1)											109.0	104.0	106.0					13																	103514800		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1301T>C	13.37:g.103514800T>C	ENSP00000347978:p.Val434Ala		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.V434A	ENST00000355739.4	37	c.1301	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366854	0.24771	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.18338	2.22	4.73	-5.21	0.02815	.	1.576730	0.04027	N	0.300794	T	0.08179	0.0204	N	0.25647	0.755	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.002	T	0.29088	-1.0023	10	0.12766	T	0.61	0.013	0.1058	0.00052	0.2508:0.1999:0.2388:0.3105	.	434;434;859	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	A	859;434;266	ENSP00000347978:V434A	ENSP00000347978:V434A	V	+	2	0	ERCC5	102312801	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.282000	0.08445	-1.304000	0.02329	0.482000	0.46254	GTG	ERCC5	-	tigrfam_XPGC_DNA_repair	ENSG00000134899		0.502	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	191	0.00	0	T			103514800	103514800	+1	no_errors	ENST00000355739	ensembl	human	known	69_37n	missense	153	21.54	42	SNP	0.000	C
EYA1	2138	genome.wustl.edu	37	8	72211888	72211888	+	Silent	SNP	A	A	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr8:72211888A>G	ENST00000340726.3	-	8	1263	c.624T>C	c.(622-624)ttT>ttC	p.F208F	EYA1_ENST00000388743.2_Silent_p.F207F|EYA1_ENST00000388741.2_Silent_p.F174F|EYA1_ENST00000419131.1_Silent_p.F203F|EYA1_ENST00000303824.7_Silent_p.F202F|EYA1_ENST00000388740.3_Silent_p.F175F|EYA1_ENST00000388742.4_Silent_p.F208F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	208					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.F208F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGAACTATTAAATCCAGAGG	0.279																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											116.0	125.0	122.0					8																	72211888		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.624T>C	8.37:g.72211888A>G			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	NULL	p.L181S	ENST00000340726.3	37	c.542	CCDS34906.1	8																																																																																			EYA1	-	NULL	ENSG00000104313		0.279	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	235	0.00	0	A	NM_000503, NM_172060		72211888	72211888	-1	no_errors	ENST00000465115	ensembl	human	known	69_37n	missense	137	20.35	35	SNP	1.000	G
AMER2	219287	genome.wustl.edu	37	13	25744436	25744437	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr13:25744436_25744437insC	ENST00000515384.1	-	1	1988_1989	c.1321_1322insG	c.(1321-1323)gacfs	p.D441fs	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Frame_Shift_Ins_p.D322fs|AMER2_ENST00000381853.3_Frame_Shift_Ins_p.D322fs			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	441					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GGAGAGCATGTCCCAGAACTCC	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1322dupG	13.37:g.25744439_25744439dupC	ENSP00000426528:p.Asp441fs		Q5RL80|Q5VX56|Q8N593|Q96NN5	Frame_Shift_Ins	INS	pfam_Uncharacterised_FAM123	p.D441fs	ENST00000515384.1	37	c.1322_1321	CCDS53859.1	13																																																																																			FAM123A	-	pfam_Uncharacterised_FAM123	ENSG00000165566		0.639	AMER2-002	KNOWN	basic|CCDS	protein_coding	FAM123A	HGNC	protein_coding	OTTHUMT00000370229.1	46	0.00	0	-	NM_152704		25744436	25744437	-1	no_errors	ENST00000515384	ensembl	human	known	69_37n	frame_shift_ins	31	24.39	10	INS	1.000:1.000	C
FBXO24	26261	genome.wustl.edu	37	7	100189458	100189458	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:100189458C>T	ENST00000241071.6	+	4	813	c.491C>T	c.(490-492)tCc>tTc	p.S164F	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.S150F|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.S152F|FBXO24_ENST00000360609.2_Missense_Mutation_p.S150F|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.S202F	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	164					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S202F(1)|p.S164F(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCCTGGTCTCCACCCTCGGC	0.577																																						dbGAP											2	Substitution - Missense(2)	breast(2)											92.0	84.0	86.0					7																	100189458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.491C>T	7.37:g.100189458C>T	ENSP00000241071:p.Ser164Phe		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.S202F	ENST00000241071.6	37	c.605	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571833	0.65765	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T	0.50813	2.31;0.73;0.73;2.32;2.3	4.89	4.89	0.63831	.	0.098119	0.45126	D	0.000389	T	0.46249	0.1383	N	0.08118	0	0.27668	N	0.946843	P;P;P;D	0.71674	0.844;0.844;0.844;0.998	B;B;B;D	0.79108	0.23;0.23;0.23;0.992	T	0.41945	-0.9480	10	0.87932	D	0	-26.5068	10.6642	0.45719	0.1909:0.8091:0.0:0.0	.	152;202;164;150	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	F	164;150;150;169;152;202	ENSP00000241071:S164F;ENSP00000353821:S150F;ENSP00000419602:S150F;ENSP00000420239:S152F;ENSP00000416558:S202F	ENSP00000241071:S164F	S	+	2	0	FBXO24	100027394	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.857000	0.48349	2.565000	0.86533	0.558000	0.71614	TCC	FBXO24	-	NULL	ENSG00000106336		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	137	0.00	0	C			100189458	100189458	+1	no_errors	ENST00000427939	ensembl	human	known	69_37n	missense	128	23.35	39	SNP	1.000	T
FLNA	2316	genome.wustl.edu	37	X	153593247	153593247	+	Silent	SNP	G	G	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chrX:153593247G>T	ENST00000369850.3	-	12	2006	c.1770C>A	c.(1768-1770)gtC>gtA	p.V590V	FLNA_ENST00000360319.4_Silent_p.V590V|FLNA_ENST00000422373.1_Silent_p.V590V|FLNA_ENST00000344736.4_Silent_p.V590V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	590					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.V590V(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTGCCAACGACGCCGCCCT	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											106.0	122.0	117.0					X																	153593247		2126	4217	6343	-	-	-	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1770C>A	X.37:g.153593247G>T			E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R576S	ENST00000369850.3	37	c.1726	CCDS48194.1	X																																																																																			FLNA	-	NULL	ENSG00000196924		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	25	0.00	0	G			153593247	153593247	-1	no_start_codon	ENST00000420627	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.754	T
GAL3ST1	9514	genome.wustl.edu	37	22	30951010	30951010	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr22:30951010A>G	ENST00000402321.1	-	3	1519	c.1202T>C	c.(1201-1203)cTg>cCg	p.L401P	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.L401P|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.L401P|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.L401P|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.L401P|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.L401P|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.L401P			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	401					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L401P(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAGGTCCATCAGGTACTGGAT	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											55.0	51.0	52.0					22																	30951010		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1202T>C	22.37:g.30951010A>G	ENSP00000385735:p.Leu401Pro		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.L401P	ENST00000402321.1	37	c.1202	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296419	0.81025	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.43100	0.1232	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.25676	-1.0125	10	0.33940	T	0.23	-24.8045	15.66	0.77178	1.0:0.0:0.0:0.0	.	401	Q99999	G3ST1_HUMAN	P	401	ENSP00000385825:L401P;ENSP00000385735:L401P;ENSP00000384122:L401P;ENSP00000384388:L401P;ENSP00000343234:L401P;ENSP00000385207:L401P;ENSP00000402587:L401P	ENSP00000343234:L401P	L	-	2	0	GAL3ST1	29281010	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.200000	0.95010	2.183000	0.69458	0.459000	0.35465	CTG	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000128242		0.642	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	29	0.00	0	A	NM_004861		30951010	30951010	-1	no_errors	ENST00000338911	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	G
GCN1L1	10985	genome.wustl.edu	37	12	120591094	120591094	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr12:120591094G>C	ENST00000300648.6	-	33	3997	c.3985C>G	c.(3985-3987)Cac>Gac	p.H1329D	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1329					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.H1329D(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTCCAGGTGCTTGGCCAGA	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	77.0	74.0					12																	120591094		2103	4217	6320	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3985C>G	12.37:g.120591094G>C	ENSP00000300648:p.His1329Asp		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H1329D	ENST00000300648.6	37	c.3985	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.062155	0.93846	.	.	ENSG00000089154	ENST00000300648	T	0.37752	1.18	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76206	-0.3044	10	0.59425	D	0.04	-17.6055	20.3632	0.98871	0.0:0.0:1.0:0.0	.	1329	Q92616	GCN1L_HUMAN	D	1329	ENSP00000300648:H1329D	ENSP00000300648:H1329D	H	-	1	0	GCN1L1	119075477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.505000	0.97989	2.826000	0.97356	0.561000	0.74099	CAC	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	74	0.00	0	G			120591094	120591094	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	C
GFPT2	9945	genome.wustl.edu	37	5	179739534	179739534	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr5:179739534C>T	ENST00000253778.8	-	15	1611	c.1442G>A	c.(1441-1443)aGt>aAt	p.S481N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	481	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.S481N(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATGAACTGACTGGTATAAGC	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	89.0	91.0					5																	179739534		1941	4136	6077	-	-	-	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1442G>A	5.37:g.179739534C>T	ENSP00000253778:p.Ser481Asn		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.S481N	ENST00000253778.8	37	c.1442	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028588	0.93518	.	.	ENSG00000131459	ENST00000253778	T	0.73789	-0.78	5.65	5.65	0.86999	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89765	0.3950	9	.	.	.	-27.3076	19.7404	0.96228	0.0:1.0:0.0:0.0	.	481	O94808	GFPT2_HUMAN	N	481	ENSP00000253778:S481N	.	S	-	2	0	GFPT2	179672140	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.711000	0.84669	2.661000	0.90470	0.650000	0.86243	AGT	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans	ENSG00000131459		0.418	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	102	0.00	0	C	NM_005110		179739534	179739534	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	missense	79	17.71	17	SNP	1.000	T
GLI2	2736	genome.wustl.edu	37	2	121743981	121743981	+	Missense_Mutation	SNP	C	C	T	rs150858529		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:121743981C>T	ENST00000452319.1	+	13	2144	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	GLI2_ENST00000361492.4_Missense_Mutation_p.T695M|GLI2_ENST00000314490.11_Missense_Mutation_p.T367M|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2									p.T695M(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGAGACCTGACGGCACTGGAT	0.692																																						dbGAP											1	Substitution - Missense(1)	breast(1)											40.0	48.0	45.0					2																	121743981		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2084C>T	2.37:g.121743981C>T	ENSP00000390436:p.Thr695Met			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T695M	ENST00000452319.1	37	c.2084	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998203	0.74818	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.22134	2.39;2.39;1.97	4.87	4.87	0.63330	.	0.210320	0.48767	D	0.000168	T	0.42154	0.1190	M	0.75777	2.31	0.32935	D	0.5176	D;D;D;D;P	0.76494	0.999;0.987;0.999;0.984;0.932	P;P;P;D;B	0.62955	0.732;0.548;0.862;0.909;0.352	T	0.57974	-0.7718	10	0.87932	D	0	.	11.6515	0.51292	0.0:0.9189:0.0:0.0811	.	695;678;350;350;367	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	M	695;695;367	ENSP00000390436:T695M;ENSP00000354586:T695M;ENSP00000312694:T367M	ENSP00000312694:T367M	T	+	2	0	GLI2	121460451	0.995000	0.38212	0.940000	0.37924	0.882000	0.50991	2.785000	0.47782	2.521000	0.84997	0.650000	0.86243	ACG	GLI2	-	NULL	ENSG00000074047		0.692	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	86	0.00	0	C	NM_005270		121743981	121743981	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	0.976	T
GPR112	139378	genome.wustl.edu	37	X	135428727	135428727	+	Silent	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chrX:135428727C>T	ENST00000394143.1	+	6	3153	c.2862C>T	c.(2860-2862)ccC>ccT	p.P954P	GPR112_ENST00000412101.1_Silent_p.P749P|GPR112_ENST00000370652.1_Silent_p.P954P|GPR112_ENST00000287534.4_Silent_p.P891P|GPR112_ENST00000394141.1_Silent_p.P749P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	954					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P954P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGGATCTCCCACTTCTGGGA	0.443																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											148.0	142.0	144.0					X																	135428727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2862C>T	X.37:g.135428727C>T			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P954	ENST00000394143.1	37	c.2862	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	262	0.00	0	C			135428727	135428727	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	260	20.25	66	SNP	0.004	T
HAS1	3036	genome.wustl.edu	37	19	52217239	52217239	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr19:52217239C>G	ENST00000222115.1	-	5	1212	c.1178G>C	c.(1177-1179)tGg>tCg	p.W393S	HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000540069.2_Missense_Mutation_p.W392S|HAS1_ENST00000601714.1_Missense_Mutation_p.W400S	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	393					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.W393S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGGTGCCACCAGAGCGCGTT	0.647																																					NSCLC(132;636 2450 45807 47979)	dbGAP											1	Substitution - Missense(1)	breast(1)											56.0	39.0	45.0					19																	52217239		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1178G>C	19.37:g.52217239C>G	ENSP00000222115:p.Trp393Ser		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.W393S	ENST00000222115.1	37	c.1178	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	c	11.09	1.535618	0.27475	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.34072	1.38;1.38	3.19	3.19	0.36642	.	0.000000	0.85682	U	0.000000	T	0.38825	0.1055	M	0.64404	1.975	0.80722	D	1	B;B;B	0.30914	0.3;0.199;0.199	B;B;B	0.37550	0.253;0.081;0.081	T	0.35919	-0.9769	10	0.38643	T	0.18	-25.9321	12.2755	0.54733	0.0:1.0:0.0:0.0	.	392;393;392	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	S	392;393	ENSP00000445021:W392S;ENSP00000222115:W393S	ENSP00000222115:W393S	W	-	2	0	HAS1	56909051	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	7.557000	0.82243	1.812000	0.52913	0.165000	0.16767	TGG	HAS1	-	NULL	ENSG00000105509		0.647	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	176	0.00	0	C	NM_001523		52217239	52217239	-1	no_errors	ENST00000222115	ensembl	human	known	69_37n	missense	103	25.71	36	SNP	1.000	G
HIST2H2AC	8338	genome.wustl.edu	37	1	149858811	149858811	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:149858811A>T	ENST00000331380.2	+	1	287	c.287A>T	c.(286-288)aAg>aTg	p.K96M	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	96						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K96M(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GAACTGAACAAGCTGCTGGGC	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	72.0	72.0					1																	149858811		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.287A>T	1.37:g.149858811A>T	ENSP00000332194:p.Lys96Met		Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K96M	ENST00000331380.2	37	c.287	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.712137	0.30322	.	.	ENSG00000184260	ENST00000331380	T	0.44083	0.93	5.67	5.67	0.87782	Histone-fold (2);Histone H2A (1);	0.000000	0.46442	D	0.000286	T	0.66297	0.2775	M	0.93241	3.395	0.45250	D	0.998257	D	0.69078	0.997	D	0.66084	0.941	T	0.77029	-0.2739	10	0.87932	D	0	.	14.7523	0.69536	1.0:0.0:0.0:0.0	.	96	Q16777	H2A2C_HUMAN	M	96	ENSP00000332194:K96M	ENSP00000332194:K96M	K	+	2	0	HIST2H2AC	148125435	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	5.970000	0.70431	2.170000	0.68504	0.533000	0.62120	AAG	HIST2H2AC	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000184260		0.572	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	264	0.37	1	A	NM_003517		149858811	149858811	+1	no_errors	ENST00000331380	ensembl	human	known	69_37n	missense	180	22.65	53	SNP	1.000	T
JTB	10899	genome.wustl.edu	37	1	153948314	153948314	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:153948314delT	ENST00000271843.4	-	4	707	c.272delA	c.(271-273)aatfs	p.N91fs	JTB_ENST00000471173.1_Intron|JTB_ENST00000356648.1_Frame_Shift_Del_p.N62fs|JTB_ENST00000368589.1_Frame_Shift_Del_p.N62fs|RP11-422P24.11_ENST00000608236.1_lincRNA	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	91					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTGAACTCATTTCTCTTAGA	0.463																																						dbGAP											0													221.0	196.0	205.0					1																	153948314		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.272delA	1.37:g.153948314delT	ENSP00000271843:p.Asn91fs		O95442|Q6IB19|Q9P0Q4	Frame_Shift_Del	DEL	pfam_JTB	p.N91fs	ENST00000271843.4	37	c.272	CCDS1057.1	1																																																																																			JTB	-	pfam_JTB	ENSG00000143543		0.463	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JTB	HGNC	protein_coding	OTTHUMT00000088996.1	254	0.00	0	T	NM_006694		153948314	153948314	-1	no_errors	ENST00000271843	ensembl	human	known	69_37n	frame_shift_del	150	25.12	51	DEL	0.834	-
KALRN	8997	genome.wustl.edu	37	3	124418847	124418847	+	Missense_Mutation	SNP	G	G	C	rs56320013	byFrequency	TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr3:124418847G>C	ENST00000291478.5	+	23	3035	c.2872G>C	c.(2872-2874)Gag>Cag	p.E958Q	KALRN_ENST00000428018.2_Missense_Mutation_p.E926Q|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Missense_Mutation_p.E2655Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2654					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTTCCCAGCGAGCCCTCGGA	0.592																																						dbGAP											0													157.0	141.0	146.0					3																	124418847		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2872G>C	3.37:g.124418847G>C	ENSP00000291478:p.Glu958Gln		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E2655Q	ENST00000291478.5	37	c.7963	CCDS3028.1	3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971062	0.92919	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.56275	0.47;0.47;0.47	6.02	6.02	0.97574	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.072630	0.52532	D	0.000061	T	0.47820	0.1466	L	0.33485	1.01	0.44454	D	0.997386	P;B	0.39601	0.68;0.319	B;B	0.40659	0.336;0.162	T	0.23691	-1.0181	10	0.18710	T	0.47	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	958;2654	C9JQ37;O60229	.;KALRN_HUMAN	Q	2655;958;926	ENSP00000353109:E2655Q;ENSP00000291478:E958Q;ENSP00000402419:E926Q	ENSP00000291478:E958Q	E	+	1	0	KALRN	125901537	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.199000	0.72112	2.865000	0.98341	0.655000	0.94253	GAG	KALRN	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000160145		0.592	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	247	0.40	1	G	NM_003947		124418847	124418847	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	152	24.75	50	SNP	1.000	C
KCNC3	3748	genome.wustl.edu	37	19	50826555	50826556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr19:50826555_50826556insG	ENST00000477616.1	-	2	1948_1949	c.1654_1655insC	c.(1654-1656)aagfs	p.K552fs	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Frame_Shift_Ins_p.K552fs	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	552					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CAGCTTCTGCTTGGCCATGGCC	0.649																																					Melanoma(91;1496 2324 50908)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1654_1655insC	19.37:g.50826555_50826556insG	ENSP00000434241:p.Lys552fs			Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.K552fs	ENST00000477616.1	37	c.1655_1654	CCDS12793.1	19																																																																																			KCNC3	-	prints_K_chnl_volt-dep_Kv3	ENSG00000131398		0.649	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	43	0.00	0	-	NM_004977		50826555	50826556	-1	no_errors	ENST00000477616	ensembl	human	known	69_37n	frame_shift_ins	31	11.43	4	INS	1.000:1.000	G
KCNC3	3748	genome.wustl.edu	37	19	50826558	50826559	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr19:50826558_50826559insGA	ENST00000477616.1	-	2	1945_1946	c.1651_1652insTC	c.(1651-1653)gccfs	p.A551fs	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Frame_Shift_Ins_p.A551fs	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	551					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CTTCTGCTTGGCCATGGCCAGC	0.644																																					Melanoma(91;1496 2324 50908)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1651_1652insTC	19.37:g.50826558_50826559insGA	ENSP00000434241:p.Ala551fs			Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.A551fs	ENST00000477616.1	37	c.1652_1651	CCDS12793.1	19																																																																																			KCNC3	-	NULL	ENSG00000131398		0.644	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	45	0.00	0	-	NM_004977		50826558	50826559	-1	no_errors	ENST00000477616	ensembl	human	known	69_37n	frame_shift_ins	34	10.53	4	INS	1.000:1.000	GA
KCNH2	3757	genome.wustl.edu	37	7	150647101	150647101	+	Intron	SNP	G	G	T	rs536958259	byFrequency	TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:150647101G>T	ENST00000262186.5	-	9	2800				KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000430723.3_Missense_Mutation_p.S851R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.S851R(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCATGGCCCCGCTTGGAGGGC	0.582													G|||	4	0.000798722	0.0	0.0	5008	,	,		16678	0.004		0.0	False		,,,				2504	0.0				GBM(137;110 1844 13671 20123 45161)	dbGAP											1	Substitution - Missense(1)	breast(1)											24.0	34.0	31.0					7																	150647101		1195	2220	3415	-	-	-	SO:0001627	intron_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2398+154C>A	7.37:g.150647101G>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.S851R	ENST00000262186.5	37	c.2553	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302437	0.40694	.	.	ENSG00000055118	ENST00000430723	D	0.99239	-5.61	3.13	-0.79	0.10932	.	.	.	.	.	D	0.95211	0.8447	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91431	0.5166	9	0.87932	D	0	.	3.6277	0.08119	0.0:0.4231:0.2074:0.3695	.	851;511	G5E9I0;Q708S9	.;.	R	851	ENSP00000387657:S851R	ENSP00000387657:S851R	S	-	3	2	KCNH2	150278034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.660000	0.05317	-0.191000	0.10448	-0.538000	0.04264	AGC	KCNH2	-	smart_cNMP-bd_dom	ENSG00000055118		0.582	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	129	0.00	0	G	NM_000238		150647101	150647101	-1	no_errors	ENST00000430723	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	0.000	T
KLHL25	64410	genome.wustl.edu	37	15	86311929	86311929	+	Silent	SNP	C	C	T	rs567307438		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr15:86311929C>T	ENST00000337975.5	-	2	1387	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.A371A	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	371					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.A371A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCATGGGCGCCGCCTTGGACC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20024	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											41.0	42.0	42.0					15																	86311929		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1113G>A	15.37:g.86311929C>T			B2RDH2|B3KRT7	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A371	ENST00000337975.5	37	c.1113	CCDS10339.1	15																																																																																			KLHL25	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000183655		0.627	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL25	HGNC	protein_coding	OTTHUMT00000309023.1	38	0.00	0	C	NM_022480		86311929	86311929	-1	no_errors	ENST00000337975	ensembl	human	known	69_37n	silent	32	13.51	5	SNP	0.386	T
KRT23	25984	genome.wustl.edu	37	17	39092736	39092737	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr17:39092736_39092737insC	ENST00000209718.3	-	2	543_544	c.119_120insG	c.(118-120)ggafs	p.G40fs	KRT23_ENST00000582283.1_5'Flank|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	40	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				AGATGCGGGCTCCCCCCGCACC	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.120dupG	17.37:g.39092742_39092742dupC	ENSP00000209718:p.Gly40fs		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Frame_Shift_Ins	INS	pfam_F,prints_Keratin_I	p.A41fs	ENST00000209718.3	37	c.120_119	CCDS11380.1	17																																																																																			KRT23	-	NULL	ENSG00000108244		0.698	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	38	0.00	0	-			39092736	39092737	-1	no_errors	ENST00000209718	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	0.000:0.968	C
LMTK3	114783	genome.wustl.edu	37	19	49004805	49004805	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr19:49004805C>T	ENST00000600059.1	-	8	1036	c.809G>A	c.(808-810)cGc>cAc	p.R270H	LMTK3_ENST00000270238.3_Missense_Mutation_p.R299H			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)|p.R285H(1)|p.R299H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGGCAGTTGCGCAGGGCCAG	0.672																																						dbGAP											4	Substitution - Missense(2)|Unknown(2)	breast(4)											36.0	44.0	42.0					19																	49004805		2193	4267	6460	-	-	-	SO:0001583	missense	0			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.809G>A	19.37:g.49004805C>T	ENSP00000472020:p.Arg270His		Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R299H	ENST00000600059.1	37	c.896		19	.	.	.	.	.	.	.	.	.	.	c	32	5.175597	0.94807	.	.	ENSG00000142235	ENST00000270238	D	0.87729	-2.29	3.48	3.48	0.39840	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000004	D	0.93687	0.7983	M	0.88377	2.95	0.50039	D	0.999843	D	0.89917	1.0	D	0.91635	0.999	D	0.94584	0.7782	10	0.87932	D	0	.	12.8686	0.57953	0.0:1.0:0.0:0.0	.	270	Q96Q04	LMTK3_HUMAN	H	299	ENSP00000270238:R299H	ENSP00000270238:R299H	R	-	2	0	LMTK3	53696617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.155000	0.64900	1.955000	0.56771	0.450000	0.29827	CGC	LMTK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000142235		0.672	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	119	0.00	0	C	NM_052895		49004805	49004805	-1	no_errors	ENST00000270238	ensembl	human	known	69_37n	missense	81	27.03	30	SNP	1.000	T
LRP6	4040	genome.wustl.edu	37	12	12397385	12397385	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr12:12397385T>A	ENST00000261349.4	-	2	336	c.260A>T	c.(259-261)cAg>cTg	p.Q87L	LRP6_ENST00000543091.1_Missense_Mutation_p.Q87L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	87	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Q87L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACAACATTCTGCACACTCTC	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											126.0	111.0	116.0					12																	12397385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.260A>T	12.37:g.12397385T>A	ENSP00000261349:p.Gln87Leu		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Q87L	ENST00000261349.4	37	c.260	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530480	0.45073	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.90504	-2.68;-2.68	5.57	4.44	0.53790	Six-bladed beta-propeller, TolB-like (1);	0.123438	0.35525	U	0.003158	D	0.90113	0.6911	M	0.83118	2.625	0.53688	D	0.999976	B;B	0.15719	0.0;0.014	B;B	0.14578	0.0;0.011	D	0.88410	0.3021	10	0.56958	D	0.05	.	10.9202	0.47161	0.0:0.0731:0.0:0.9269	.	87;87	F5H7J9;O75581	.;LRP6_HUMAN	L	87	ENSP00000261349:Q87L;ENSP00000442472:Q87L	ENSP00000261349:Q87L	Q	-	2	0	LRP6	12288652	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.274000	0.58921	2.123000	0.65237	0.377000	0.23210	CAG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	327	0.00	0	T			12397385	12397385	-1	no_errors	ENST00000261349	ensembl	human	known	69_37n	missense	133	25.28	45	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12011108	12011109	+	Splice_Site	INS	-	-	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr17:12011108_12011109insT	ENST00000353533.5	+	5	578_579	c.515_516insT	c.(514-519)ggtgac>ggTtgac	p.D173fs	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Splice_Site_p.D184fs	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.D173fs*1(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTTTATAGGGTGACTGTTGGA	0.287			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Insertion - Frameshift(1)|Unknown(1)	breast(5)|ovary(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.514-1->T	17.37:g.12011109_12011109dupT			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D184fs	ENST00000353533.5	37	c.548_549	CCDS11162.1	17																																																																																			MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.287	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	233	0.00	0	-		Frame_Shift_Ins	12011108	12011109	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	frame_shift_ins	135	29.32	56	INS	1.000:1.000	T
MBD1	4152	genome.wustl.edu	37	18	47800615	47800615	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr18:47800615C>T	ENST00000591416.1	-	11	1518	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R	MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.G363R|MBD1_ENST00000339998.6_Missense_Mutation_p.G363R|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000457839.2_Missense_Mutation_p.G388R|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000353909.3_Missense_Mutation_p.G314R|MBD1_ENST00000269468.5_Missense_Mutation_p.G363R|MBD1_ENST00000269471.5_Missense_Mutation_p.G340R|MBD1_ENST00000588937.1_Missense_Mutation_p.G340R|MBD1_ENST00000590208.1_Missense_Mutation_p.G363R|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585672.1_Missense_Mutation_p.G313R|MBD1_ENST00000591535.1_Missense_Mutation_p.G340R|MBD1_ENST00000585595.1_Missense_Mutation_p.G388R|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.G414R|MBD1_ENST00000436910.1_Missense_Mutation_p.G340R			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	363					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G363R(2)|p.G388R(1)|p.G340R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTGCTGCCCCCGAATTTGGGC	0.647																																						dbGAP											4	Substitution - Missense(4)	breast(4)											66.0	63.0	64.0					18																	47800615		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1087G>A	18.37:g.47800615C>T	ENSP00000467017:p.Gly363Arg		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.G414R	ENST00000591416.1	37	c.1240	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866955	0.91511	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000269468;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839	D;D;D;D;D;D;D;D	0.99270	-5.31;-5.36;-5.31;-5.52;-5.5;-5.66;-5.27;-5.57	5.71	5.71	0.89125	Zinc finger, CXXC-type (2);	0.000000	0.64402	D	0.000001	D	0.99542	0.9836	M	0.91249	3.19	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98457	1.0594	10	0.87932	D	0	-20.3173	17.7362	0.88394	0.0:1.0:0.0:0.0	.	414;340;363;363;340;314;363;388	B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9;B4DXJ5	.;.;.;.;.;.;MBD1_HUMAN;.	R	363;314;363;340;340;414;363;363;388	ENSP00000372407:G363R;ENSP00000269469:G314R;ENSP00000269468:G363R;ENSP00000409561:G340R;ENSP00000269471:G340R;ENSP00000408846:G414R;ENSP00000339546:G363R;ENSP00000405268:G388R	ENSP00000269468:G363R	G	-	1	0	MBD1	46054613	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.558000	0.73942	2.873000	0.98535	0.561000	0.74099	GGG	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.647	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	53	0.00	0	C	NM_015846		47800615	47800615	-1	no_errors	ENST00000424334	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	T
MCTP2	55784	genome.wustl.edu	37	15	94910918	94910918	+	Silent	SNP	T	T	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr15:94910918T>A	ENST00000357742.4	+	10	1386	c.1386T>A	c.(1384-1386)ctT>ctA	p.L462L	MCTP2_ENST00000557742.1_Silent_p.L50L|MCTP2_ENST00000451018.3_Silent_p.L462L|MCTP2_ENST00000331706.4_Silent_p.L50L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	462					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.L462L(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGGCTCTCCTTATGTTGGTCA	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											86.0	86.0	86.0					15																	94910918		2197	4298	6495	-	-	-	SO:0001819	synonymous_variant	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1386T>A	15.37:g.94910918T>A			A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L462	ENST00000357742.4	37	c.1386	CCDS32338.1	15																																																																																			MCTP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000140563		0.542	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	69	0.00	0	T	NM_018349		94910918	94910918	+1	no_errors	ENST00000357742	ensembl	human	known	69_37n	silent	102	11.30	13	SNP	0.004	A
MDN1	23195	genome.wustl.edu	37	6	90388354	90388354	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr6:90388354C>T	ENST00000369393.3	-	75	12491	c.12376G>A	c.(12376-12378)Gct>Act	p.A4126T	MDN1_ENST00000428876.1_Missense_Mutation_p.A4126T|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4126					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.A4126T(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGACAAAGCTCGCTGTTTT	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											189.0	170.0	177.0					6																	90388354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12376G>A	6.37:g.90388354C>T	ENSP00000358400:p.Ala4126Thr		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.A4126T	ENST00000369393.3	37	c.12376	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169968	0.57584	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04406	3.63;3.63	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01496	-1.1340	10	0.62326	D	0.03	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	4126	Q9NU22	MDN1_HUMAN	T	4126	ENSP00000358400:A4126T;ENSP00000413970:A4126T	ENSP00000358400:A4126T	A	-	1	0	MDN1	90445075	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	7.382000	0.79729	2.277000	0.76020	0.561000	0.74099	GCT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	125	0.00	0	C			90388354	90388354	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	72	13.10	11	SNP	1.000	T
CLCN5	1184	genome.wustl.edu	37	X	49767767	49767767	+	Intron	SNP	C	C	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chrX:49767767C>G	ENST00000376088.3	+	4	657				MIR188_ENST00000385034.1_RNA|CLCN5_ENST00000482218.2_Intron|MIR532_ENST00000385025.1_RNA|CLCN5_ENST00000376091.3_Intron	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTTGCTTTCTCTCCTCCATGC	0.517																																						dbGAP											0													129.0	102.0	110.0					X																	49767767		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.17-39158C>G	X.37:g.49767767C>G			A1L475|B3KPN6|Q5JQD5|Q7RTN8	RNA	SNP	-	NULL	ENST00000376088.3	37	NULL	CCDS48115.1	X																																																																																			MIR532	-	-	ENSG00000207758		0.517	CLCN5-001	KNOWN	basic|CCDS	protein_coding	MIR532	HGNC	protein_coding	OTTHUMT00000056542.2	371	0.00	0	C			49767767	49767767	+1	no_errors	ENST00000385025	ensembl	human	known	69_37n	rna	214	20.15	54	SNP	1.000	G
MLYCD	23417	genome.wustl.edu	37	16	83940597	83940597	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr16:83940597G>A	ENST00000262430.4	+	2	553	c.534G>A	c.(532-534)atG>atA	p.M178I	RP11-505K9.4_ENST00000566309.1_5'Flank	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	178	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.M178I(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTCAGGAAATGAATGGGGTGC	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											158.0	155.0	156.0					16																	83940597		1895	4111	6006	-	-	-	SO:0001583	missense	0			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.534G>A	16.37:g.83940597G>A	ENSP00000262430:p.Met178Ile		Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	pfam_Malonyl_CoA_deC	p.M178I	ENST00000262430.4	37	c.534	CCDS42206.1	16	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983689	0.35036	.	.	ENSG00000103150	ENST00000262430	D	0.87966	-2.32	5.19	5.19	0.71726	.	0.045541	0.85682	D	0.000000	D	0.84469	0.5479	L	0.38175	1.15	0.80722	D	1	P	0.41345	0.746	B	0.41988	0.372	D	0.86274	0.1663	10	0.62326	D	0.03	-60.1787	18.1065	0.89521	0.0:0.0:1.0:0.0	.	178	O95822	DCMC_HUMAN	I	178	ENSP00000262430:M178I	ENSP00000262430:M178I	M	+	3	0	MLYCD	82498098	1.000000	0.71417	0.944000	0.38274	0.144000	0.21451	4.561000	0.60809	2.593000	0.87608	0.655000	0.94253	ATG	MLYCD	-	pfam_Malonyl_CoA_deC	ENSG00000103150		0.478	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLYCD	HGNC	protein_coding	OTTHUMT00000433009.1	115	0.00	0	G	NM_012213		83940597	83940597	+1	no_errors	ENST00000262430	ensembl	human	known	69_37n	missense	152	14.53	26	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9056288	9056288	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr19:9056288G>C	ENST00000397910.4	-	3	31361	c.31158C>G	c.(31156-31158)agC>agG	p.S10386R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10388	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6019R(1)|p.S10386R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTGGTTGGCTTGAAGTGT	0.488																																						dbGAP											2	Substitution - Missense(2)	breast(2)											175.0	172.0	173.0					19																	9056288		2066	4218	6284	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31158C>G	19.37:g.9056288G>C	ENSP00000381008:p.Ser10386Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S10386R	ENST00000397910.4	37	c.31158	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.245	0.602115	0.13939	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.61	0.267	0.15622	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	.	.	.	D	0.64830	0.994	P	0.53912	0.737	T	0.44452	-0.9327	8	0.87932	D	0	.	4.2867	0.10858	0.1997:0.1905:0.6098:0.0	.	10386	B5ME49	.	R	10386	ENSP00000381008:S10386R	ENSP00000381008:S10386R	S	-	3	2	MUC16	8917288	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.132000	0.10467	0.158000	0.19367	0.591000	0.81541	AGC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	112	0.00	0	G	NM_024690		9056288	9056288	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	102	24.82	34	SNP	0.000	C
MYCBPAP	84073	genome.wustl.edu	37	17	48595031	48595031	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr17:48595031G>C	ENST00000323776.5	+	4	731	c.569G>C	c.(568-570)aGa>aCa	p.R190T	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R153T	NM_032133.4	NP_115509.4			MYCBP associated protein									p.R153T(1)|p.R190T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GATTTTAAGAGAATTGCACTT	0.522																																						dbGAP											2	Substitution - Missense(2)	breast(2)											69.0	65.0	67.0					17																	48595031		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.569G>C	17.37:g.48595031G>C	ENSP00000323184:p.Arg190Thr			Missense_Mutation	SNP	NULL	p.R190T	ENST00000323776.5	37	c.569	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606209	0.66445	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.25250	1.81;1.82	5.6	5.6	0.85130	.	0.192920	0.46442	D	0.000298	T	0.39600	0.1084	M	0.76574	2.34	0.32984	D	0.524064	D;D	0.56035	0.974;0.974	P;P	0.53861	0.736;0.736	T	0.58451	-0.7634	10	0.62326	D	0.03	-20.3178	7.6544	0.28367	0.0829:0.0:0.7416:0.1755	.	153;190	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	T	190;205;153	ENSP00000323184:R190T;ENSP00000397209:R153T	ENSP00000323184:R190T	R	+	2	0	MYCBPAP	45950030	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.588000	0.36633	2.641000	0.89580	0.563000	0.77884	AGA	MYCBPAP	-	NULL	ENSG00000136449		0.522	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	37	0.00	0	G	NM_032133		48595031	48595031	+1	no_errors	ENST00000323776	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	C
NBPF11	200030	genome.wustl.edu	37	1	146055394	146055394	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:146055394A>G	ENST00000604938.1	-	7	1527	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L	NBPF11_ENST00000401009.2_5'Flank|NBPF11_ENST00000605317.1_Missense_Mutation_p.F131L|NBPF11_ENST00000479926.2_Intron|NBPF11_ENST00000369323.3_Intron|NBPF11_ENST00000604894.1_Intron|NBPF11_ENST00000339388.5_Missense_Mutation_p.F77L			Q86T75	NBPFB_HUMAN	neuroblastoma breakpoint family, member 11	77						cytoplasm (GO:0005737)						all_hematologic(923;0.0276)					TCCTCCTTGAACTGTCGCTCA	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					1q21.1	2014-01-16			ENSG00000152042	ENSG00000263956		"""neuroblastoma breakpoint family"""	31993	protein-coding gene	gene with protein product		614001	"""neuroblastoma breakpoint family, member 24"""	NBPF24		16079250	Standard	XM_006711197		Approved			Q86T75	OTTHUMG00000013880	ENST00000604938.1:c.229T>C	1.37:g.146055394A>G	ENSP00000474107:p.Phe77Leu		B1AKG1|B7Z7R4	Missense_Mutation	SNP	pfam_NBPF_dom,superfamily_Secretoglobin	p.F77L	ENST00000604938.1	37	c.229		1	.	.	.	.	.	.	.	.	.	.	a	6.536	0.467153	0.12402	.	.	ENSG00000152042	ENST00000339388;ENST00000479926	T	0.03124	4.04	0.804	0.804	0.18697	.	.	.	.	.	T	0.01254	0.0041	L	0.43701	1.375	0.09310	N	1	B;P	0.43392	0.217;0.805	B;P	0.45506	0.083;0.483	T	0.41034	-0.9531	9	0.12430	T	0.62	.	4.0046	0.09595	1.0:0.0:0.0:0.0	.	77;77	B7WNR1;Q86T75	.;NBPFB_HUMAN	L	77	ENSP00000345181:F77L	ENSP00000345181:F77L	F	-	1	0	NBPF11	144766751	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	0.928000	0.28831	0.644000	0.30656	0.325000	0.21440	TTC	NBPF11	-	NULL	ENSG00000152042		0.517	NBPF11-001	KNOWN	basic|appris_candidate	protein_coding	NBPF11	HGNC	protein_coding	OTTHUMT00000351193.2	34	0.00	0	A	NM_183372		146055394	146055394	-1	no_errors	ENST00000339388	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.002	G
NKX3-2	579	genome.wustl.edu	37	4	13543811	13543811	+	Silent	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr4:13543811G>A	ENST00000382438.5	-	2	1443	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	270					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 involved in negative regulation of transcription (GO:0001078)	p.L270L(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GAGGCCAGCAGGTCGGCTGCC	0.657																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											15.0	16.0	16.0					4																	13543811		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.808C>T	4.37:g.13543811G>A			Q2M2I7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L270	ENST00000382438.5	37	c.808	CCDS3410.1	4																																																																																			NKX3-2	-	superfamily_Homeodomain-like	ENSG00000109705		0.657	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX3-2	HGNC	protein_coding	OTTHUMT00000207317.3	28	0.00	0	G			13543811	13543811	-1	no_errors	ENST00000382438	ensembl	human	known	69_37n	silent	21	32.26	10	SNP	1.000	A
NOTCH2	4853	genome.wustl.edu	37	1	120529653	120529653	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:120529653C>A	ENST00000256646.2	-	5	1023	c.804G>T	c.(802-804)agG>agT	p.R268S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	268	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R268S(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCTGACACCTGTGGTTAG	0.453			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	breast(1)											138.0	128.0	132.0					1																	120529653		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.804G>T	1.37:g.120529653C>A	ENSP00000256646:p.Arg268Ser		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R268S	ENST00000256646.2	37	c.804	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	8.896	0.955130	0.18507	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.60672	0.17	6.06	5.07	0.68467	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.377447	0.19074	U	0.123429	T	0.16896	0.0406	N	0.02697	-0.525	0.35618	D	0.809182	B;B;B	0.21688	0.059;0.029;0.042	B;B;B	0.27796	0.083;0.078;0.037	T	0.06427	-1.0827	10	0.09338	T	0.73	.	14.3917	0.66983	0.1212:0.7714:0.1074:0.0	.	229;268;268	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	268;229	ENSP00000256646:R268S	ENSP00000256646:R268S	R	-	3	2	NOTCH2	120331176	0.342000	0.24809	1.000000	0.80357	0.987000	0.75469	-0.199000	0.09491	2.882000	0.98803	0.655000	0.94253	AGG	NOTCH2	-	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.453	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	313	0.00	0	C	NM_024408		120529653	120529653	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	272	18.32	61	SNP	1.000	A
OR6T1	219874	genome.wustl.edu	37	11	123814154	123814154	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr11:123814154C>A	ENST00000321252.2	-	1	426	c.392G>T	c.(391-393)cGc>cTc	p.R131L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGTCTCATAGCGGAGTGGTCG	0.547																																						dbGAP											2	Substitution - Missense(2)	lung(1)|breast(1)											72.0	65.0	67.0					11																	123814154		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.392G>T	11.37:g.123814154C>A	ENSP00000325203:p.Arg131Leu		Q6IFE7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R131L	ENST00000321252.2	37	c.392	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	c	12.33	1.905936	0.33628	.	.	ENSG00000181499	ENST00000321252	T	0.39787	1.06	3.85	-1.29	0.09288	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30885	0.0779	L	0.37630	1.12	0.23421	N	0.997718	B	0.21688	0.059	B	0.22601	0.04	T	0.34403	-0.9830	9	0.87932	D	0	-6.1835	8.2333	0.31612	0.0:0.4045:0.0:0.5955	.	131	Q8NGN1	OR6T1_HUMAN	L	131	ENSP00000325203:R131L	ENSP00000325203:R131L	R	-	2	0	OR6T1	123319364	0.000000	0.05858	0.144000	0.22314	0.845000	0.48019	-0.805000	0.04530	-0.151000	0.11176	-0.404000	0.06349	CGC	OR6T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181499		0.547	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	104	0.00	0	C	NM_001005187		123814154	123814154	-1	no_errors	ENST00000321252	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	0.994	A
PAPOLG	64895	genome.wustl.edu	37	2	61021858	61021858	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:61021858A>T	ENST00000238714.3	+	20	2252	c.2003A>T	c.(2002-2004)gAa>gTa	p.E668V		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	668					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E668V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTCGACTTGAATCAACATTT	0.294																																					GBM(183;1497 2932 21839 46797)	dbGAP											1	Substitution - Missense(1)	breast(1)											64.0	67.0	66.0					2																	61021858		2202	4292	6494	-	-	-	SO:0001583	missense	0			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.2003A>T	2.37:g.61021858A>T	ENSP00000238714:p.Glu668Val		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.E668V	ENST00000238714.3	37	c.2003	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215705	0.79352	.	.	ENSG00000115421	ENST00000238714	.	.	.	6.17	6.17	0.99709	.	0.222097	0.53938	D	0.000055	T	0.65375	0.2685	L	0.43152	1.355	0.53688	D	0.999973	D;P	0.61080	0.989;0.84	P;P	0.58266	0.836;0.513	T	0.66991	-0.5783	9	0.59425	D	0.04	-29.3598	14.1954	0.65667	1.0:0.0:0.0:0.0	.	202;668	Q53T81;Q9BWT3	.;PAPOG_HUMAN	V	668	.	ENSP00000238714:E668V	E	+	2	0	PAPOLG	60875362	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.709000	0.61867	2.371000	0.80710	0.533000	0.62120	GAA	PAPOLG	-	NULL	ENSG00000115421		0.294	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3	81	0.00	0	A	NM_022894		61021858	61021858	+1	no_errors	ENST00000238714	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	1.000	T
PCDHB10	56126	genome.wustl.edu	37	5	140574045	140574045	+	Silent	SNP	C	C	G	rs619668	byFrequency	TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr5:140574045C>G	ENST00000239446.4	+	1	2104	c.1920C>G	c.(1918-1920)ctC>ctG	p.L640L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L640L(3)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACAGGCTCGTGGTGCTTG	0.682																																						dbGAP											3	Substitution - coding silent(3)	prostate(2)|upper_aerodigestive_tract(1)											25.0	26.0	25.0					5																	140574045		2048	3902	5950	-	-	-	SO:0001819	synonymous_variant	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1920C>G	5.37:g.140574045C>G			Q96T99	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L640	ENST00000239446.4	37	c.1920	CCDS4252.1	5																																																																																			PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.682	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	11	0.00	0	C	NM_018930		140574045	140574045	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.002	G
PFKFB4	5210	genome.wustl.edu	37	3	48573805	48573805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr3:48573805delG	ENST00000232375.3	-	8	836	c.724delC	c.(724-726)ctcfs	p.L242fs	PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Frame_Shift_Del_p.L242fs|PFKFB4_ENST00000541519.1_Frame_Shift_Del_p.L208fs|PFKFB4_ENST00000416568.1_Frame_Shift_Del_p.L242fs|PFKFB4_ENST00000536104.1_Frame_Shift_Del_p.L231fs|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	242	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATGTTCATGAGGTAATATACG	0.592																																						dbGAP											0													156.0	152.0	153.0					3																	48573805		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.724delC	3.37:g.48573805delG	ENSP00000232375:p.Leu242fs		Q5S3G5|Q5XLC2|Q64EX5	Frame_Shift_Del	DEL	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.L242fs	ENST00000232375.3	37	c.724	CCDS2771.1	3																																																																																			PFKFB4	-	pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	ENSG00000114268		0.592	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB4	HGNC	protein_coding	OTTHUMT00000257503.2	218	0.00	0	G	NM_004567		48573805	48573805	-1	no_errors	ENST00000232375	ensembl	human	known	69_37n	frame_shift_del	125	81.82	603	DEL	1.000	-
PITX2	5308	genome.wustl.edu	37	4	111539646	111539646	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr4:111539646A>C	ENST00000354925.2	-	7	2294	c.589T>G	c.(589-591)Ttc>Gtc	p.F197V	PITX2_ENST00000306732.3_Missense_Mutation_p.F204V|PITX2_ENST00000394598.2_Missense_Mutation_p.F197V|PITX2_ENST00000355080.5_Missense_Mutation_p.F151V|PITX2_ENST00000394595.3_Missense_Mutation_p.L128R|PITX2_ENST00000556049.1_5'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	197					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F197V(1)|p.F204V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATAGAGTTGAAGAAGGGGAAG	0.552																																						dbGAP											2	Substitution - Missense(2)	breast(2)											86.0	75.0	78.0					4																	111539646		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.589T>G	4.37:g.111539646A>C	ENSP00000347004:p.Phe197Val		A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.F204V	ENST00000354925.2	37	c.610	CCDS3692.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.84|13.84	2.356234|2.356234	0.41700|0.41700	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049|ENST00000394595	D;D;D;D;D;T|.	0.92858|.	-2.76;-2.88;-3.02;-2.88;-3.12;-0.67|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.105012|.	0.64402|.	D|.	0.000001|.	T|T	0.73257|0.73257	0.3564|0.3564	M|M	0.69248|0.69248	2.105|2.105	0.45946|0.45946	D|D	0.99877|0.99877	D;D;D;P|.	0.89917|.	1.0;0.981;0.995;0.537|.	D;D;D;B|.	0.85130|.	0.997;0.943;0.956;0.219|.	T|T	0.77167|0.77167	-0.2687|-0.2687	10|6	0.15066|0.87932	T|D	0.55|0	.|.	14.7095|14.7095	0.69218|0.69218	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	151;151;197;204|.	A8K6C6;Q99697-3;Q99697;Q99697-2|.	.;.;PITX2_HUMAN;.|.	V|R	204;197;151;197;197;121|128	ENSP00000304169:F204V;ENSP00000378097:F197V;ENSP00000347192:F151V;ENSP00000347004:F197V;ENSP00000421454:F197V;ENSP00000450938:F121V|.	ENSP00000304169:F204V|ENSP00000378095:L128R	F|L	-|-	1|2	0|0	PITX2|PITX2	111759095|111759095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.139000|9.139000	0.94554|0.94554	2.130000|2.130000	0.65690|0.65690	0.460000|0.460000	0.39030|0.39030	TTC|CTT	PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.552	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	158	0.00	0	A			111539646	111539646	-1	no_errors	ENST00000306732	ensembl	human	known	69_37n	missense	108	20.44	28	SNP	1.000	C
PMS2	5395	genome.wustl.edu	37	7	6038878	6038878	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:6038878T>G	ENST00000265849.7	-	6	671	c.566A>C	c.(565-567)cAt>cCt	p.H189P	PMS2_ENST00000382321.4_Missense_Mutation_p.H189P|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.H189P|PMS2_ENST00000441476.2_Missense_Mutation_p.H83P	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	189					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.H189P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACAGTATGCATGTAAGACCTG	0.408			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	1	Substitution - Missense(1)	breast(1)											142.0	129.0	134.0					7																	6038878		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.566A>C	7.37:g.6038878T>G	ENSP00000265849:p.His189Pro		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.H189P	ENST00000265849.7	37	c.566	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810057	0.70797	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476;ENST00000406569	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.65	5.65	0.86999	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.243450	0.42172	D	0.000743	T	0.81403	0.4815	L	0.60455	1.87	0.42012	D	0.990948	P;P;P;D	0.55385	0.84;0.588;0.775;0.971	P;B;B;P	0.57101	0.525;0.19;0.274;0.813	D	0.83530	0.0090	10	0.66056	D	0.02	-2.3318	15.8788	0.79185	0.0:0.0:0.0:1.0	.	189;189;189;83	P54278-3;P54278-2;P54278;C9J167	.;.;PMS2_HUMAN;.	P	189;142;189;83;189	ENSP00000265849:H189P;ENSP00000371758:H189P;ENSP00000392843:H83P;ENSP00000384308:H189P	ENSP00000265849:H189P	H	-	2	0	PMS2	6005404	1.000000	0.71417	0.357000	0.25798	0.869000	0.49853	7.598000	0.82745	2.155000	0.67459	0.482000	0.46254	CAT	PMS2	-	superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000122512		0.408	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	130	0.00	0	T	NM_000535		6038878	6038878	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	missense	128	17.95	28	SNP	0.998	G
PREPL	9581	genome.wustl.edu	37	2	44549012	44549012	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:44549012T>A	ENST00000409936.1	-	14	2485	c.2048A>T	c.(2047-2049)gAt>gTt	p.D683V	PREPL_ENST00000541738.1_Missense_Mutation_p.D594V|PREPL_ENST00000409272.1_Missense_Mutation_p.D683V|PREPL_ENST00000260648.6_Missense_Mutation_p.D683V|PREPL_ENST00000378520.3_Missense_Mutation_p.D617V|PREPL_ENST00000378511.3_Missense_Mutation_p.D621V|PREPL_ENST00000409411.1_Missense_Mutation_p.D594V|PREPL_ENST00000409957.1_Missense_Mutation_p.D594V|PREPL_ENST00000410081.1_Missense_Mutation_p.D683V	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	683						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.D683V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGCTGAATATCTAGAATAAT	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	87.0	86.0					2																	44549012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2048A>T	2.37:g.44549012T>A	ENSP00000386543:p.Asp683Val		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.D683V	ENST00000409936.1	37	c.2048	CCDS33190.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.068022|4.068022	0.76301|0.76301	.|.	.|.	ENSG00000138078|ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511|ENST00000420756	T;T;T;T;T;T;T;T;T|.	0.26810|.	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);|.	0.167251|.	0.51477|.	D|.	0.000084|.	T|T	0.69700|0.69700	0.3140|0.3140	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.978;0.998|.	D;P;D|.	0.85130|.	0.997;0.851;0.971|.	T|T	0.69308|0.69308	-0.5179|-0.5179	10|5	0.87932|.	D|.	0|.	-22.2421|-22.2421	13.2706|13.2706	0.60159|0.60159	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	621;617;683|.	Q4J6C6-3;Q4J6C6-2;Q4J6C6|.	.;.;PPCEL_HUMAN|.	V|L	594;594;594;683;683;683;683;617;621|65	ENSP00000439626:D594V;ENSP00000387095:D594V;ENSP00000387241:D594V;ENSP00000386543:D683V;ENSP00000260648:D683V;ENSP00000386909:D683V;ENSP00000386509:D683V;ENSP00000367781:D617V;ENSP00000367772:D621V|.	ENSP00000260648:D683V|.	D|I	-|-	2|1	0|0	PREPL|PREPL	44402516|44402516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.500000|5.500000	0.66943|0.66943	2.050000|2.050000	0.60909|0.60909	0.482000|0.482000	0.46254|0.46254	GAT|ATA	PREPL	-	pfam_Peptidase_S9	ENSG00000138078		0.403	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	159	0.00	0	T	NM_006036		44549012	44549012	-1	no_errors	ENST00000260648	ensembl	human	known	69_37n	missense	72	32.71	35	SNP	1.000	A
PVRIG	79037	genome.wustl.edu	37	7	99818791	99818791	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:99818791C>A	ENST00000317271.2	+	6	1261	c.898C>A	c.(898-900)Cct>Act	p.P300T	AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	300						integral component of membrane (GO:0016021)		p.P300T(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGAGAGGCCTCCTCACAC	0.647																																						dbGAP											1	Substitution - Missense(1)	breast(1)											36.0	39.0	38.0					7																	99818791		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.898C>A	7.37:g.99818791C>A	ENSP00000316675:p.Pro300Thr		D6W5U9|Q9BVK3	Missense_Mutation	SNP	NULL	p.P300T	ENST00000317271.2	37	c.898	CCDS5690.1	7	.	.	.	.	.	.	.	.	.	.	c	13.41	2.228858	0.39399	.	.	ENSG00000213413	ENST00000317271	T	0.60672	0.17	2.88	1.99	0.26369	.	.	.	.	.	T	0.53077	0.1774	L	0.32530	0.975	0.09310	N	1	D	0.59357	0.985	P	0.52758	0.708	T	0.41106	-0.9527	9	0.87932	D	0	.	6.0547	0.19804	0.0:0.8549:0.0:0.1451	.	300	Q6DKI7	PVRIG_HUMAN	T	300	ENSP00000316675:P300T	ENSP00000316675:P300T	P	+	1	0	PVRIG	99656727	0.011000	0.17503	0.008000	0.14137	0.117000	0.20001	1.804000	0.38873	0.800000	0.34041	-0.424000	0.05967	CCT	PVRIG	-	NULL	ENSG00000213413		0.647	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRIG	HGNC	protein_coding	OTTHUMT00000345870.2	84	0.00	0	C	NM_024070		99818791	99818791	+1	no_errors	ENST00000317271	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.008	A
RAB20	55647	genome.wustl.edu	37	13	111176499	111176500	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr13:111176499_111176500insC	ENST00000267328.3	-	2	430_431	c.217_218insG	c.(217-219)gcgfs	p.A73fs		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	73					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCAG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.218dupG	13.37:g.111176505_111176505dupC	ENSP00000267328:p.Ala73fs		Q5T9X5|Q9NX49	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A73fs	ENST00000267328.3	37	c.218_217	CCDS9512.1	13																																																																																			RAB20	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000139832		0.604	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	34	0.00	0	-	NM_017817		111176499	111176500	-1	no_errors	ENST00000267328	ensembl	human	known	69_37n	frame_shift_ins	18	14.29	3	INS	1.000:1.000	C
RTN4	57142	genome.wustl.edu	37	2	55209715	55209715	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:55209715A>C	ENST00000337526.6	-	5	3539	c.3296T>G	c.(3295-3297)gTg>gGg	p.V1099G	RTN4_ENST00000394609.2_Missense_Mutation_p.V106G|RTN4_ENST00000394611.2_Missense_Mutation_p.V893G|RTN4_ENST00000317610.7_Missense_Mutation_p.V280G|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000404909.1_Missense_Mutation_p.V893G|RTN4_ENST00000405240.1_Missense_Mutation_p.V893G|RTN4_ENST00000357376.3_Missense_Mutation_p.V893G|RTN4_ENST00000354474.6_Missense_Mutation_p.V867G|RTN4_ENST00000402434.2_Missense_Mutation_p.V252G|RTN4_ENST00000357732.4_Missense_Mutation_p.V299G	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1099	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V1099G(1)|p.V106G(1)|p.V893G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CGTGCAGTTCACATGACCAAG	0.373																																						dbGAP											3	Substitution - Missense(3)	breast(3)											104.0	96.0	99.0					2																	55209715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3296T>G	2.37:g.55209715A>C	ENSP00000337838:p.Val1099Gly		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.V1099G	ENST00000337526.6	37	c.3296	CCDS42684.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.665370|4.665370	0.88251|0.88251	.|.	.|.	ENSG00000115310|ENSG00000115310	ENST00000438462|ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	.|T;T;T;T;T;T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.292573	.|0.38272	.|N	.|0.001751	T|T	0.70150|0.70150	0.3191|0.3191	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D;B	.|0.89917	.|0.982;0.988;1.0;0.269	.|D;D;D;P	.|0.80764	.|0.949;0.915;0.994;0.485	T|T	0.74293|0.74293	-0.3712|-0.3712	5|10	.|0.87932	.|D	.|0	-12.0171|-12.0171	16.2055|16.2055	0.82126|0.82126	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|280;299;1099;106	.|Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.|.;.;RTN4_HUMAN;.	W|G	122|106;893;893;1099;280;299;893;893;252;867	.|ENSP00000378107:V106G;ENSP00000384471:V893G;ENSP00000349944:V893G;ENSP00000337838:V1099G;ENSP00000322147:V280G;ENSP00000350365:V299G;ENSP00000378109:V893G;ENSP00000385650:V893G;ENSP00000384825:V252G;ENSP00000346465:V867G	.|ENSP00000322147:V280G	C|V	-|-	3|2	2|0	RTN4|RTN4	55063219|55063219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.305000|7.305000	0.78891|0.78891	2.226000|2.226000	0.72624|0.72624	0.482000|0.482000	0.46254|0.46254	TGT|GTG	RTN4	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000115310		0.373	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	91	0.00	0	A			55209715	55209715	-1	no_errors	ENST00000337526	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	1.000	C
COA7	65260	genome.wustl.edu	37	1	53153417	53153417	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr1:53153417C>G	ENST00000371538.3	-	3	710	c.671G>C	c.(670-672)gGt>gCt	p.G224A	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2												p.G224A(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GGGTTGGACACCTTTCTGCTG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	142.0	149.0					1																	53153417		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000371538.3:c.671G>C	1.37:g.53153417C>G	ENSP00000360593:p.Gly224Ala			Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.G224A	ENST00000371538.3	37	c.671	CCDS570.1	1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.787394	0.00628	.	.	ENSG00000162377	ENST00000371538	T	0.40225	1.04	5.55	-1.79	0.07932	.	0.967881	0.08593	N	0.922743	T	0.15392	0.0371	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	10	0.07325	T	0.83	-8.7124	3.6031	0.08032	0.0909:0.4709:0.1214:0.3169	.	224	Q96BR5	SELR1_HUMAN	A	224	ENSP00000360593:G224A	ENSP00000360593:G224A	G	-	2	0	SELRC1	52926005	0.004000	0.15560	0.005000	0.12908	0.037000	0.13140	0.021000	0.13489	-0.269000	0.09298	-0.274000	0.10170	GGT	SELRC1	-	NULL	ENSG00000162377		0.527	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELRC1	HGNC	protein_coding	OTTHUMT00000023462.1	192	0.00	0	C			53153417	53153417	-1	no_errors	ENST00000371538	ensembl	human	known	69_37n	missense	130	10.96	16	SNP	0.001	G
SEPT10	151011	genome.wustl.edu	37	2	110343411	110343411	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:110343411C>A	ENST00000397712.2	-	3	482	c.104G>T	c.(103-105)aGa>aTa	p.R35I	SEPT10_ENST00000397714.2_Missense_Mutation_p.R12I|SEPT10_ENST00000415095.1_Missense_Mutation_p.R35I|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000356688.4_Missense_Mutation_p.R35I|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000437928.1_Missense_Mutation_p.R20I	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	35					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R35I(1)|p.R12I(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						AATGTTTTCTCTTTTCTGAAG	0.343																																						dbGAP											2	Substitution - Missense(2)	breast(2)											79.0	72.0	74.0					2																	110343411		1845	4090	5935	-	-	-	SO:0001583	missense	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.104G>T	2.37:g.110343411C>A	ENSP00000380824:p.Arg35Ile		B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.R35I	ENST00000397712.2	37	c.104	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038265	0.35989	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000437928;ENST00000415095;ENST00000411469;ENST00000442746	T;T;T;T;T	0.53423	0.62;0.67;0.68;0.66;0.67	4.76	-4.25	0.03766	.	0.761943	0.12294	N	0.481779	T	0.33059	0.0850	L	0.27053	0.805	0.23076	N	0.99833	P;B;B	0.34462	0.454;0.147;0.158	B;B;B	0.33799	0.169;0.17;0.106	T	0.15037	-1.0451	10	0.51188	T	0.08	.	15.4488	0.75257	0.0:0.1276:0.0:0.8724	.	35;12;35	B5ME97;Q9P0V9-3;Q9P0V9	.;.;SEP10_HUMAN	I	35;35;12;20;35;20;26	ENSP00000349116:R35I;ENSP00000380824:R35I;ENSP00000380826:R12I;ENSP00000407790:R20I;ENSP00000396728:R35I	ENSP00000349116:R35I	R	-	2	0	SEPT10	109700700	0.155000	0.22806	0.176000	0.23000	0.780000	0.44128	0.054000	0.14205	-0.752000	0.04728	-0.145000	0.13849	AGA	SEPT10	-	NULL	ENSG00000186522		0.343	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	189	0.00	0	C	NM_144710		110343411	110343411	-1	no_errors	ENST00000397712	ensembl	human	known	69_37n	missense	152	22.84	45	SNP	0.222	A
SETD2	29072	genome.wustl.edu	37	3	47164390	47164390	+	Missense_Mutation	SNP	T	T	C	rs558486080		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr3:47164390T>C	ENST00000409792.3	-	3	1778	c.1736A>G	c.(1735-1737)aAt>aGt	p.N579S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	579					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.N76S(1)|p.N579S(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATTTCTTCATTTAATTCTGT	0.308			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	breast(2)											52.0	59.0	57.0					3																	47164390		2201	4298	6499	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1736A>G	3.37:g.47164390T>C	ENSP00000386759:p.Asn579Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.N579S	ENST00000409792.3	37	c.1736	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	T	6.472	0.455185	0.12283	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87887	-2.31;1.55	5.25	1.44	0.22558	.	0.511591	0.19499	N	0.112786	T	0.70474	0.3228	N	0.14661	0.345	0.22762	N	0.998765	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.55198	-0.8178	10	0.30854	T	0.27	.	2.969	0.05917	0.129:0.0799:0.2584:0.5327	.	579;579	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	579;579;579;535	ENSP00000386759:N579S;ENSP00000416401:N535S	ENSP00000386759:N579S	N	-	2	0	SETD2	47139394	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.080000	0.41586	0.433000	0.26313	-0.263000	0.10527	AAT	SETD2	-	NULL	ENSG00000181555		0.308	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	28	0.00	0	T	NM_014159		47164390	47164390	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.980	C
SHC4	399694	genome.wustl.edu	37	15	49148280	49148282	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr15:49148280_49148282delTCT	ENST00000332408.4	-	8	1538_1540	c.1110_1112delAGA	c.(1108-1113)gaagat>gat	p.E370del	SHC4_ENST00000537958.1_In_Frame_Del_p.E84del|SHC4_ENST00000396535.3_In_Frame_Del_p.E127del	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	370	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.E370delE(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ATATTCATGATCTTCTCTCTCCT	0.448																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1110_1112delAGA	15.37:g.49148283_49148285delTCT	ENSP00000329668:p.Glu370del		Q6UXQ3|Q8IYW3	In_Frame_Del	DEL	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2	p.E370in_frame_del	ENST00000332408.4	37	c.1112_1110	CCDS10130.1	15																																																																																			SHC4	-	NULL	ENSG00000185634		0.448	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	209	0.00	0	TCT	NM_203349		49148280	49148282	-1	no_errors	ENST00000332408	ensembl	human	known	69_37n	in_frame_del	176	10.61	21	DEL	0.999:1.000:1.000	-
SLC4A4	8671	genome.wustl.edu	37	4	72316952	72316953	+	Frame_Shift_Ins	INS	-	-	A	rs201149572|rs150324904	byFrequency	TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr4:72316952_72316953insA	ENST00000264485.5	+	11	1373_1374	c.1256_1257insA	c.(1255-1260)acgcccfs	p.P420fs	SLC4A4_ENST00000340595.3_Frame_Shift_Ins_p.P376fs|SLC4A4_ENST00000512686.1_Frame_Shift_Ins_p.P376fs|SLC4A4_ENST00000425175.1_Frame_Shift_Ins_p.P420fs|SLC4A4_ENST00000351898.6_Frame_Shift_Ins_p.P420fs|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	420					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.T375T(1)|p.T419T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AATGGGGATACGCCCCATGATG	0.446																																						dbGAP											2	Substitution - coding silent(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	Exception_encountered	4.37:g.72316952_72316953insA	ENSP00000264485:p.Pro420fs		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.P420fs	ENST00000264485.5	37	c.1256_1257	CCDS43236.1	4																																																																																			SLC4A4	-	tigrfam_HCO3_transpt_euk	ENSG00000080493		0.446	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	184	0.00	0	-	NM_003759		72316952	72316953	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	frame_shift_ins	165	16.67	33	INS	0.996:0.391	A
SLC4A4	8671	genome.wustl.edu	37	4	72316953	72316953	+	Silent	SNP	G	G	C	rs201149572		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr4:72316953G>C	ENST00000264485.5	+	11	1374	c.1257G>C	c.(1255-1257)acG>acC	p.T419T	SLC4A4_ENST00000340595.3_Silent_p.T375T|SLC4A4_ENST00000512686.1_Silent_p.T375T|SLC4A4_ENST00000425175.1_Silent_p.T419T|SLC4A4_ENST00000351898.6_Silent_p.T419T|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	419					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.T375T(1)|p.T419T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATGGGGATACGCCCCATGATG	0.448																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											202.0	168.0	179.0					4																	72316953		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1257G>C	4.37:g.72316953G>C			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T419	ENST00000264485.5	37	c.1257	CCDS43236.1	4																																																																																			SLC4A4	-	tigrfam_HCO3_transpt_euk	ENSG00000080493		0.448	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	190	0.00	0	G	NM_003759		72316953	72316953	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	silent	163	16.42	33	SNP	0.391	C
SRCAP	10847	genome.wustl.edu	37	16	30722922	30722922	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr16:30722922A>T	ENST00000262518.4	+	11	1734	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q450L|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q450L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	450	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.Q450L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTATTGCAGCAGTATGCAGGA	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	85.0	86.0					16																	30722922		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1349A>T	16.37:g.30722922A>T	ENSP00000262518:p.Gln450Leu		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.Q450L	ENST00000262518.4	37	c.1349	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039991	0.35989	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.82;-2.78;-2.78	4.95	1.42	0.22433	.	0.374247	0.23239	N	0.050379	D	0.82568	0.5065	L	0.36672	1.1	0.33373	D	0.573863	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.75345	-0.3350	10	0.48119	T	0.1	-1.5034	5.0823	0.14663	0.7114:0.0:0.154:0.1346	.	450;450;450	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	L	450	ENSP00000262518:Q450L;ENSP00000378499:Q450L;ENSP00000343042:Q450L	ENSP00000262518:Q450L	Q	+	2	0	SRCAP	30630423	0.997000	0.39634	0.999000	0.59377	0.904000	0.53231	1.125000	0.31332	0.110000	0.17919	0.533000	0.62120	CAG	SRCAP	-	NULL	ENSG00000080603		0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	248	0.00	0	A	NM_006662		30722922	30722922	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	294	12.72	43	SNP	1.000	T
SUPT6H	6830	genome.wustl.edu	37	17	27001581	27001581	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr17:27001581G>A	ENST00000314616.6	+	4	578	c.295G>A	c.(295-297)Gat>Aat	p.D99N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D99N|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	99	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D99N(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCTGGAGGATGATGATTTTGA	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											175.0	159.0	165.0					17																	27001581		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.295G>A	17.37:g.27001581G>A	ENSP00000319104:p.Asp99Asn		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D99N	ENST00000314616.6	37	c.295	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288742	0.80914	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.82981	0.5155	M	0.78344	2.41	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.83820	0.0246	9	0.87932	D	0	-21.4656	20.3057	0.98631	0.0:0.0:1.0:0.0	.	99	Q7KZ85	SPT6H_HUMAN	N	99	.	ENSP00000319104:D99N	D	+	1	0	SUPT6H	24025708	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.426000	0.97469	2.791000	0.96007	0.655000	0.94253	GAT	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.473	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	357	0.00	0	G	NM_003170		27001581	27001581	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	312	25.54	107	SNP	1.000	A
TARS	6897	genome.wustl.edu	37	5	33461087	33461087	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr5:33461087A>C	ENST00000265112.3	+	12	1642	c.1331A>C	c.(1330-1332)gAg>gCg	p.E444A	TARS_ENST00000502553.1_Missense_Mutation_p.E444A|TARS_ENST00000455217.2_Missense_Mutation_p.E477A|TARS_ENST00000414361.2_Missense_Mutation_p.E323A|TARS_ENST00000541634.1_Missense_Mutation_p.E340A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	444					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.E444A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CATAGGAACGAGCTGTCTGGA	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											94.0	95.0	95.0					5																	33461087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1331A>C	5.37:g.33461087A>C	ENSP00000265112:p.Glu444Ala		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.E444A	ENST00000265112.3	37	c.1331	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725934	0.89298	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.99946	5.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.989;0.953;0.989	D	0.99675	1.0997	10	0.87932	D	0	0.0042	16.8222	0.85835	1.0:0.0:0.0:0.0	.	323;477;340;444	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	A	444;444;340;477;323	ENSP00000424387:E444A;ENSP00000265112:E444A;ENSP00000438469:E340A;ENSP00000387710:E477A;ENSP00000394291:E323A	ENSP00000265112:E444A	E	+	2	0	TARS	33496844	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	GAG	TARS	-	pfam_aa-tRNA-synt_IIb_cons-dom,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.502	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	126	0.00	0	A	NM_152295		33461087	33461087	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	missense	58	25.64	20	SNP	1.000	C
TECTA	7007	genome.wustl.edu	37	11	121060518	121060518	+	Missense_Mutation	SNP	C	C	A	rs149716373		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr11:121060518C>A	ENST00000392793.1	+	23	6567	c.6296C>A	c.(6295-6297)aCg>aAg	p.T2099K	TECTA_ENST00000264037.2_Missense_Mutation_p.T2099K			O75443	TECTA_HUMAN	tectorin alpha	2099					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T2099K(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAGATTTGCACGAGCCGGGTG	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	138.0	142.0					11																	121060518		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6296C>A	11.37:g.121060518C>A	ENSP00000376543:p.Thr2099Lys			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.T2099K	ENST00000392793.1	37	c.6296	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779188	0.90195	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95588	-3.75;-3.75	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.054940	0.64402	D	0.000001	D	0.94722	0.8297	N	0.16368	0.405	0.50813	D	0.999897	D	0.56521	0.976	P	0.56563	0.801	D	0.95493	0.8571	10	0.87932	D	0	.	19.9541	0.97213	0.0:1.0:0.0:0.0	.	2099	O75443	TECTA_HUMAN	K	2099	ENSP00000376543:T2099K;ENSP00000264037:T2099K	ENSP00000264037:T2099K	T	+	2	0	TECTA	120565728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.557000	0.60782	2.815000	0.96918	0.561000	0.74099	ACG	TECTA	-	smart_EGF-like	ENSG00000109927		0.552	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	479	0.00	0	C	NM_005422		121060518	121060518	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	missense	239	10.15	27	SNP	1.000	A
PYDC1	260434	genome.wustl.edu	37	16	31230728	31230728	+	5'Flank	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr16:31230728G>A	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.G202E	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)		p.G202E(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGTGAGGCAGGGGTCGCCTTG	0.687																																						dbGAP											2	Substitution - Missense(2)	breast(2)											45.0	50.0	48.0					16																	31230728		2197	4300	6497	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230728G>A	Exception_encountered		B2R8L4|Q8NFP8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.G202E	ENST00000302964.3	37	c.605	CCDS10710.1	16	.	.	.	.	.	.	.	.	.	.	G	8.791	0.930514	0.18131	.	.	ENSG00000177238	ENST00000322122	T	0.61158	0.13	5.37	5.37	0.77165	.	0.286853	0.30028	N	0.010587	T	0.67924	0.2945	L	0.53249	1.67	0.19775	N	0.999954	D	0.71674	0.998	P	0.62560	0.904	T	0.62044	-0.6937	10	0.54805	T	0.06	.	12.8463	0.57831	0.0:0.2782:0.7218:0.0	.	202	Q6ZMU5	TRI72_HUMAN	E	202	ENSP00000312675:G202E	ENSP00000312675:G202E	G	+	2	0	TRIM72	31138229	0.934000	0.31675	0.466000	0.27168	0.331000	0.28603	1.597000	0.36729	2.502000	0.84385	0.655000	0.94253	GGG	TRIM72	-	NULL	ENSG00000177238		0.687	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000255543.2	32	0.00	0	G	NM_152901		31230728	31230728	+1	no_errors	ENST00000322122	ensembl	human	known	69_37n	missense	59	30.59	26	SNP	0.241	A
TRIML1	339976	genome.wustl.edu	37	4	189068235	189068235	+	Silent	SNP	T	T	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr4:189068235T>A	ENST00000332517.3	+	6	1256	c.1116T>A	c.(1114-1116)ccT>ccA	p.P372P	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P372P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCAAGCCACCTGGGGACCTGT	0.527																																					Melanoma(31;213 1036 16579 23968 32372)	dbGAP											1	Substitution - coding silent(1)	breast(1)											94.0	95.0	95.0					4																	189068235		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1116T>A	4.37:g.189068235T>A			Q96BE5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.P372	ENST00000332517.3	37	c.1116	CCDS3851.1	4																																																																																			TRIML1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000184108		0.527	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	26	0.00	0	T	NM_178556		189068235	189068235	+1	no_errors	ENST00000332517	ensembl	human	known	69_37n	silent	90	18.18	20	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179471808	179471808	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:179471808T>C	ENST00000591111.1	-	228	48822	c.48598A>G	c.(48598-48600)Aac>Gac	p.N16200D	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N8901D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N8968D|TTN_ENST00000460472.2_Missense_Mutation_p.N8776D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N15273D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N17841D			Q8WZ42	TITIN_HUMAN	titin	16200	Fibronectin type-III 17. {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.N15273D(2)|p.N8776D(1)|p.N8901D(1)|p.N8968D(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)			CCAAACTTGTTCTTGGCAATA	0.403																																						dbGAP											5	Substitution - Missense(5)	breast(5)											179.0	173.0	174.0					2																	179471808		1893	4116	6009	-	-	-	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.48598A>G	2.37:g.179471808T>C	ENSP00000465570:p.Asn16200Asp		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.N15273D	ENST00000591111.1	37	c.45817		2	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139002	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.35	5.35	0.76521	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84397	0.5463	H	0.97516	4.02	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.90131	0.4206	9	0.87932	D	0	.	15.3434	0.74314	0.0:0.0:0.0:1.0	.	8776;8901;8968;16200	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15273;8776;8968;8901;8776	ENSP00000343764:N15273D;ENSP00000434586:N8776D;ENSP00000340554:N8968D;ENSP00000352154:N8901D	ENSP00000340554:N8968D	N	-	1	0	TTN	179180053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.035000	0.60131	0.459000	0.35465	AAC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	324	0.00	0	T	NM_133378		179471808	179471808	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	254	25.51	87	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179605674	179605674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:179605674delG	ENST00000591111.1	-	46	11559	c.11335delC	c.(11335-11337)catfs	p.H3779fs	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.H3858fs|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.H3925fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.H3733fs|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.H4096fs			Q8WZ42	TITIN_HUMAN	titin	33951					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.H3858fs*8(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)			TTAGCAATATGCTCATAAGAT	0.413																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											100.0	97.0	98.0					2																	179605674		1879	4102	5981	-	-	-	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11335delC	2.37:g.179605674delG	ENSP00000465570:p.His3779fs		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	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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.H3925fs	ENST00000591111.1	37	c.11773		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	129	0.00	0	G	NM_133378		179605674	179605674	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	frame_shift_del	145	17.51	31	DEL	0.116	-
URGCP	55665	genome.wustl.edu	37	7	43917712	43917712	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:43917712G>T	ENST00000453200.1	-	6	1843	c.1350C>A	c.(1348-1350)gaC>gaA	p.D450E	URGCP_ENST00000336086.6_Missense_Mutation_p.D407E|URGCP_ENST00000402306.3_Missense_Mutation_p.D441E|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.D407E|URGCP_ENST00000443736.1_Missense_Mutation_p.D407E|URGCP_ENST00000447717.3_Missense_Mutation_p.D407E			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	450					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.D407E(1)|p.D450E(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGTGCGCCATGTCCTCCACAG	0.577																																						dbGAP											2	Substitution - Missense(2)	breast(2)											100.0	106.0	104.0					7																	43917712		2079	4202	6281	-	-	-	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1350C>A	7.37:g.43917712G>T	ENSP00000396918:p.Asp450Glu		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	prints_GTP_binding_domain	p.D450E	ENST00000453200.1	37	c.1350	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873766	0.17322	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10192	2.91;2.91;2.9;2.91;2.9;2.91	5.7	0.311	0.15831	.	0.564473	0.19209	N	0.119996	T	0.06371	0.0164	L	0.38531	1.155	0.23602	N	0.99731	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.35176	-0.9799	10	0.29301	T	0.29	-23.8535	0.8313	0.01131	0.2213:0.1252:0.3228:0.3307	.	441;450	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	E	407;407;441;407;450;407	ENSP00000223341:D407E;ENSP00000336872:D407E;ENSP00000384955:D441E;ENSP00000392136:D407E;ENSP00000396918:D450E;ENSP00000402803:D407E	ENSP00000223341:D407E	D	-	3	2	URGCP	43884237	0.113000	0.22115	0.991000	0.47740	0.801000	0.45260	-0.315000	0.08081	-0.263000	0.09378	-0.218000	0.12543	GAC	URGCP	-	NULL	ENSG00000106608		0.577	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1	94	0.00	0	G	NM_001077664		43917712	43917712	-1	no_errors	ENST00000453200	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	0.948	T
USP37	57695	genome.wustl.edu	37	2	219410972	219410972	+	Missense_Mutation	SNP	C	C	G	rs367906021		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:219410972C>G	ENST00000258399.3	-	8	1064	c.652G>C	c.(652-654)Gat>Cat	p.D218H	USP37_ENST00000338465.5_Missense_Mutation_p.D218H|USP37_ENST00000415516.1_Missense_Mutation_p.D146H|USP37_ENST00000454775.1_Missense_Mutation_p.D218H|USP37_ENST00000418019.1_Missense_Mutation_p.D218H	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	218					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.D218H(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTAGGGTAATCTTCATTCAAT	0.338																																						dbGAP											1	Substitution - Missense(1)	breast(1)											139.0	130.0	133.0					2																	219410972		2201	4300	6501	-	-	-	SO:0001583	missense	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.652G>C	2.37:g.219410972C>G	ENSP00000258399:p.Asp218His		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.D218H	ENST00000258399.3	37	c.652	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799772	0.50208	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.60672	0.58;0.58;0.56;0.58;0.17	4.56	4.56	0.56223	.	0.049367	0.85682	D	0.000000	T	0.68915	0.3053	L	0.45581	1.43	0.51233	D	0.999916	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.972	T	0.69621	-0.5096	10	0.49607	T	0.09	-17.1183	14.3342	0.66578	0.0:1.0:0.0:0.0	.	218;146;218	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	H	218;218;146;218;218	ENSP00000258399:D218H;ENSP00000393662:D218H;ENSP00000400902:D146H;ENSP00000396585:D218H;ENSP00000345043:D218H	ENSP00000258399:D218H	D	-	1	0	USP37	219119216	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.779000	0.62375	2.344000	0.79699	0.563000	0.77884	GAT	USP37	-	NULL	ENSG00000135913		0.338	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	225	0.00	0	C	NM_020935		219410972	219410972	-1	no_errors	ENST00000258399	ensembl	human	known	69_37n	missense	176	19.27	42	SNP	1.000	G
VPS13A	23230	genome.wustl.edu	37	9	80020881	80020881	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr9:80020881G>A	ENST00000360280.3	+	70	9637	c.9377G>A	c.(9376-9378)aGa>aAa	p.R3126K	VPS13A_ENST00000376636.3_Missense_Mutation_p.R3087K|VPS13A_ENST00000484581.2_Missense_Mutation_p.R62K|VPS13A_ENST00000376646.3_Missense_Mutation_p.R62K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3126					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R3126K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTCATGGGAGAAGATTGCGC	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											193.0	183.0	186.0					9																	80020881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9377G>A	9.37:g.80020881G>A	ENSP00000353422:p.Arg3126Lys		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.R3126K	ENST00000360280.3	37	c.9377	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223374	0.79464	.	.	ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646	T;T;T;T	0.66815	0.96;1.04;-0.23;-0.23	5.92	5.92	0.95590	.	0.162448	0.51477	D	0.000084	T	0.57666	0.2069	L	0.38175	1.15	0.53005	D	0.999963	B;B	0.33448	0.094;0.412	B;B	0.27262	0.039;0.078	T	0.53472	-0.8434	9	.	.	.	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	3087;3126	Q96RL7-3;Q96RL7	.;VP13A_HUMAN	K	3087;3126;62;62	ENSP00000365823:R3087K;ENSP00000353422:R3126K;ENSP00000446020:R62K;ENSP00000365834:R62K	.	R	+	2	0	VPS13A	79210701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.221000	0.95188	2.801000	0.96364	0.650000	0.86243	AGA	VPS13A	-	NULL	ENSG00000197969		0.333	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	365	0.00	0	G	NM_015186		80020881	80020881	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	229	24.92	76	SNP	1.000	A
VPS37A	137492	genome.wustl.edu	37	8	17137583	17137583	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr8:17137583G>T	ENST00000324849.4	+	7	1434	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	VPS37A_ENST00000521829.1_Nonsense_Mutation_p.E229*	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	254					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.E254*(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GGTATTACTAGAACAGTTTCT	0.343																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											86.0	85.0	86.0					8																	17137583		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.760G>T	8.37:g.17137583G>T	ENSP00000318629:p.Glu254*		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Nonsense_Mutation	SNP	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.E254*	ENST00000324849.4	37	c.760	CCDS6001.1	8	.	.	.	.	.	.	.	.	.	.	G	44	10.625545	0.99440	.	.	ENSG00000155975	ENST00000324849;ENST00000521829;ENST00000521976	.	.	.	5.0	5.0	0.66597	.	0.200770	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-10.1556	19.2412	0.93883	0.0:0.0:1.0:0.0	.	.	.	.	X	254;229;27	.	ENSP00000318629:E254X	E	+	1	0	VPS37A	17181954	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.995000	0.63908	2.717000	0.92951	0.585000	0.79938	GAA	VPS37A	-	pfam_Mod_r	ENSG00000155975		0.343	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	84	0.00	0	G	NM_152415		17137583	17137583	+1	no_errors	ENST00000324849	ensembl	human	known	69_37n	nonsense	45	22.03	13	SNP	1.000	T
YLPM1	56252	genome.wustl.edu	37	14	75247126	75247126	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr14:75247126G>C	ENST00000552421.1	+	3	1253	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	YLPM1_ENST00000238571.3_Missense_Mutation_p.D377H|YLPM1_ENST00000325680.7_Missense_Mutation_p.D377H			P49750	YLPM1_HUMAN	YLP motif containing 1	377					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D377H(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCAGAAGAAGATGCCAGGTT	0.423																																						dbGAP											2	Substitution - Missense(2)	breast(2)											113.0	110.0	111.0					14																	75247126		1951	4151	6102	-	-	-	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1129G>C	14.37:g.75247126G>C	ENSP00000447921:p.Asp377His		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.D377H	ENST00000552421.1	37	c.1129		14	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169612	0.21621	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.26	5.26	0.73747	.	0.184296	0.38111	N	0.001806	T	0.41119	0.1145	N	0.19112	0.55	0.31614	N	0.651072	P	0.49559	0.925	P	0.53593	0.73	T	0.48581	-0.9023	9	0.49607	T	0.09	-10.2554	13.2054	0.59793	0.0764:0.0:0.9236:0.0	.	377	P49750-4	.	H	377;377;377;90	.	ENSP00000238571:D377H	D	+	1	0	YLPM1	74316879	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.655000	0.67981	2.455000	0.83008	0.655000	0.94253	GAT	YLPM1	-	NULL	ENSG00000119596		0.423	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	300	0.00	0	G	NM_019589		75247126	75247126	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	142	18.86	33	SNP	1.000	C
ZNF142	7701	genome.wustl.edu	37	2	219509198	219509199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr2:219509198_219509199insG	ENST00000449707.1	-	8	2461_2462	c.2040_2041insC	c.(2038-2043)ggtggcfs	p.G681fs	ZNF142_ENST00000411696.2_Frame_Shift_Ins_p.G681fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGGGACTGCCACCCAGGTCAC	0.634																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2040_2041insC	2.37:g.219509198_219509199insG	ENSP00000408643:p.Gly681fs		Q92510	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G680fs	ENST00000449707.1	37	c.2041_2040	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.634	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	45	0.00	0	-	NM_005081		219509198	219509199	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	frame_shift_ins	23	37.84	14	INS	0.065:0.000	G
ZNF438	220929	genome.wustl.edu	37	10	31134261	31134261	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr10:31134261C>G	ENST00000361310.3	-	7	2445	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q	ZNF438_ENST00000538351.2_Missense_Mutation_p.E657Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E706Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E706Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E706Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E696Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E696Q|ZNF438_ENST00000452305.1_Missense_Mutation_p.E696Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E270Q			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	706					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E706Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTCCCTCTCTCAGGATGCCTT	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											81.0	72.0	75.0					10																	31134261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2116G>C	10.37:g.31134261C>G	ENSP00000354663:p.Glu706Gln		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E706Q	ENST00000361310.3	37	c.2116	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734566	0.48939	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.15139	2.45;2.46;2.46;2.46;2.46;2.45;2.45;2.46;2.56	5.58	2.72	0.32119	.	0.089086	0.85682	D	0.000000	T	0.31167	0.0788	M	0.72894	2.215	0.44092	D	0.996852	D;D	0.71674	0.996;0.998	P;P	0.58266	0.69;0.836	T	0.01587	-1.1318	10	0.51188	T	0.08	-16.3596	8.4297	0.32750	0.0:0.7321:0.1272:0.1407	.	706;696	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	Q	696;706;706;706;706;696;696;657;425;270	ENSP00000333571:E696Q;ENSP00000354663:E706Q;ENSP00000406934:E706Q;ENSP00000412363:E706Q;ENSP00000387546:E706Q;ENSP00000413060:E696Q;ENSP00000410898:E696Q;ENSP00000445461:E657Q;ENSP00000364460:E270Q	ENSP00000333571:E696Q	E	-	1	0	ZNF438	31174267	0.998000	0.40836	0.017000	0.16124	0.011000	0.07611	4.096000	0.57734	0.308000	0.22923	0.655000	0.94253	GAG	ZNF438	-	NULL	ENSG00000183621		0.542	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	83	0.00	0	C	NM_182755		31134261	31134261	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.970	G
ZNF485	220992	genome.wustl.edu	37	10	44111988	44111988	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr10:44111988C>A	ENST00000361807.3	+	5	691	c.497C>A	c.(496-498)gCc>gAc	p.A166D	ZNF485_ENST00000374435.3_Missense_Mutation_p.A166D|ZNF485_ENST00000374437.2_Missense_Mutation_p.A75D	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A127D(1)|p.A166D(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TGTGGGATCGCCTTTATGAAC	0.393																																						dbGAP											2	Substitution - Missense(2)	breast(2)											125.0	121.0	122.0					10																	44111988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.497C>A	10.37:g.44111988C>A	ENSP00000354694:p.Ala166Asp		B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A166D	ENST00000361807.3	37	c.497	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	4.884	0.164321	0.09287	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.14266	2.52;2.52;2.52	2.52	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21387	0.0515	L	0.60067	1.865	0.09310	N	1	P	0.36171	0.541	P	0.47015	0.534	T	0.12218	-1.0556	9	0.72032	D	0.01	.	7.3944	0.26927	0.0:0.7271:0.2729:0.0	.	166	Q8NCK3	ZN485_HUMAN	D	166;75;166	ENSP00000354694:A166D;ENSP00000363560:A75D;ENSP00000363558:A166D	ENSP00000354694:A166D	A	+	2	0	ZNF485	43431994	0.000000	0.05858	0.040000	0.18447	0.235000	0.25334	-1.632000	0.02024	1.720000	0.51447	0.462000	0.41574	GCC	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	123	0.00	0	C	NM_145312		44111988	44111988	+1	no_errors	ENST00000361807	ensembl	human	known	69_37n	missense	76	30.91	34	SNP	0.002	A
ZNF646	9726	genome.wustl.edu	37	16	31087657	31087658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr16:31087657_31087658insC	ENST00000394979.2	+	1	435_436	c.12_13insC	c.(13-15)cccfs	p.P5fs	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000538906.1_5'Flank|ZNF646_ENST00000300850.5_Frame_Shift_Ins_p.P5fs|ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000394983.2_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGAGGACACACCCCCCTCACT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.18dupC	16.37:g.31087663_31087663dupC	ENSP00000378429:p.Pro5fs		Q8IVD8	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S6fs	ENST00000394979.2	37	c.12_13		16																																																																																			ZNF646	-	NULL	ENSG00000167395		0.614	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	31	0.00	0	-	NM_014699		31087657	31087658	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.000:0.235	C
ZNF777	27153	genome.wustl.edu	37	7	149152291	149152292	+	Frame_Shift_Ins	INS	-	-	G	rs373890587		TCGA-AO-A03T-01A-21W-A050-09	TCGA-AO-A03T-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cbea866d-da66-4f7c-994b-c1ec35aa2d4b	467c3965-5537-4c89-a3f0-ba3eca9854b4	g.chr7:149152291_149152292insG	ENST00000247930.4	-	2	1145_1146	c.822_823insC	c.(820-825)cccggcfs	p.G275fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCATTGCTGCCGGGGGGCAGCC	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.823dupC	7.37:g.149152297_149152297dupG	ENSP00000247930:p.Gly275fs		Q8N2R2|Q8N659	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G274fs	ENST00000247930.4	37	c.823_822	CCDS43675.1	7																																																																																			ZNF777	-	NULL	ENSG00000196453		0.530	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	19	0.00	0	-	NM_015694		149152291	149152292	-1	no_errors	ENST00000247930	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	0.979:0.003	G
