#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA13	154664	genome.wustl.edu	37	7	48308594	48308594	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:48308594C>A	ENST00000435803.1	+	16	2047	c.2023C>A	c.(2023-2025)Cct>Act	p.P675T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	675					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			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						TGAGGAATCTCCTTGTTTTGA	0.289																																																	0													39.0	37.0	38.0					7																	48308594		1789	4054	5843	SO:0001583	missense	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.2023C>A	7.37:g.48308594C>A	ENSP00000411096:p.Pro675Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P675T	ENST00000435803.1	37	c.2023	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150616	0.57151	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	4.16	4.16	0.48862	.	0.137778	0.33631	N	0.004712	D	0.90494	0.7022	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.91316	0.5078	10	0.87932	D	0	.	12.2967	0.54852	0.0:1.0:0.0:0.0	.	675	Q86UQ4	ABCAD_HUMAN	T	675	ENSP00000411096:P675T	ENSP00000411096:P675T	P	+	1	0	ABCA13	48279140	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	1.550000	0.36223	2.024000	0.59613	0.491000	0.48974	CCT	ABCA13	-	NULL	ENSG00000179869		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	56	0	C	NM_152701		48308594	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.993	A
ACAP2	23527	genome.wustl.edu	37	3	195013077	195013077	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:195013077C>T	ENST00000326793.6	-	19	2100	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	624					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAAAGCCTCAGCCATTTTA	0.418																																																	0													156.0	156.0	156.0					3																	195013077		2203	4300	6503	SO:0001583	missense	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1870G>A	3.37:g.195013077C>T	ENSP00000324287:p.Glu624Lys		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E624K	ENST00000326793.6	37	c.1870	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898266	0.91962	.	.	ENSG00000114331	ENST00000326793	T	0.63096	-0.02	5.43	5.43	0.79202	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.69358	2.11	0.58432	D	0.999997	P	0.38420	0.63	B	0.40864	0.342	T	0.60850	-0.7181	10	0.17832	T	0.49	.	18.2382	0.89957	0.0:1.0:0.0:0.0	.	624	Q15057	ACAP2_HUMAN	K	624	ENSP00000324287:E624K	ENSP00000324287:E624K	E	-	1	0	ACAP2	196494366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.519000	0.67074	2.560000	0.86352	0.655000	0.94253	GAG	ACAP2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000114331		0.418	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	-	0.00	39	0	C	NM_012287		195013077	-1	tier1	-	no_errors	ENST00000326793	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	T
ADCK1	57143	genome.wustl.edu	37	14	78392246	78392246	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:78392246C>T	ENST00000238561.5	+	9	1247	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A315V	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	390	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGCTGACGGCGCGATCGTGG	0.597																																																	0													154.0	156.0	156.0					14																	78392246		2203	4300	6503	SO:0001583	missense	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1148C>T	14.37:g.78392246C>T	ENSP00000238561:p.Ala383Val		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.A383V	ENST00000238561.5	37	c.1148	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362537	0.82353	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.66995	-0.24;1.15	5.26	5.26	0.73747	.	0.049652	0.85682	D	0.000000	T	0.78842	0.4347	M	0.81802	2.56	0.80722	D	1	P;D;D	0.69078	0.944;0.997;0.99	B;P;P	0.57425	0.354;0.82;0.657	T	0.75941	-0.3140	10	0.16896	T	0.51	-44.8616	18.8748	0.92331	0.0:1.0:0.0:0.0	.	390;315;383	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	V	383;315	ENSP00000238561:A383V;ENSP00000339663:A315V	ENSP00000238561:A383V	A	+	2	0	ADCK1	77461999	1.000000	0.71417	0.914000	0.36105	0.199000	0.23934	5.985000	0.70556	2.461000	0.83175	0.643000	0.83706	GCG	ADCK1	-	NULL	ENSG00000063761		0.597	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	-	0.00	60	0	C	NM_020421		78392246	+1	tier1	-	no_errors	ENST00000238561	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
AGBL5	60509	genome.wustl.edu	37	2	27280243	27280243	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:27280243G>A	ENST00000360131.4	+	9	1767	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G	AGBL5_ENST00000323064.8_Silent_p.G536G	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	536					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGACAATGGGCGTGCCAGCC	0.507																																																	0													90.0	85.0	87.0					2																	27280243		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1608G>A	2.37:g.27280243G>A			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.G536	ENST00000360131.4	37	c.1608	CCDS1732.3	2																																																																																			AGBL5	-	NULL	ENSG00000084693		0.507	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	-	0.00	46	0	G	NM_021831		27280243	+1	tier1	-	no_errors	ENST00000360131	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	A
AMER3	205147	genome.wustl.edu	37	2	131520725	131520725	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:131520725C>T	ENST00000423981.1	+	2	1190	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	AMER3_ENST00000321420.4_Silent_p.S360S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	360					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACCCTCGCAGCGGCTCCAAAG	0.652																																																	0													40.0	38.0	39.0					2																	131520725		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1080C>T	2.37:g.131520725C>T			B7ZLH6	Silent	SNP	pfam_Uncharacterised_FAM123	p.S360	ENST00000423981.1	37	c.1080	CCDS2164.1	2																																																																																			AMER3	-	pfam_Uncharacterised_FAM123	ENSG00000178171		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3		0.00	30	0	C	NM_152698		131520725	+1			no_errors	ENST00000321420	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.043	T
ANKFN1	162282	genome.wustl.edu	37	17	54450102	54450102	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:54450102G>C	ENST00000318698.2	+	6	741	c.706G>C	c.(706-708)Gga>Cga	p.G236R	ANKFN1_ENST00000566473.2_Missense_Mutation_p.G236R	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	236										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGAGAATGAAGGATTCACTCT	0.522																																																	0													174.0	160.0	165.0					17																	54450102		2203	4300	6503	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.706G>C	17.37:g.54450102G>C	ENSP00000321627:p.Gly236Arg			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.G236R	ENST00000318698.2	37	c.706	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346812	0.41599	.	.	ENSG00000153930	ENST00000318698	T	0.24723	1.84	5.78	4.81	0.61882	.	0.095769	0.64402	D	0.000001	T	0.25938	0.0632	L	0.60455	1.87	0.46437	D	0.999049	P	0.45902	0.868	B	0.42319	0.383	T	0.04440	-1.0951	10	0.16896	T	0.51	-6.5059	12.0996	0.53776	0.1379:0.0:0.8621:0.0	.	236	Q8N957	ANKF1_HUMAN	R	236	ENSP00000321627:G236R	ENSP00000321627:G236R	G	+	1	0	ANKFN1	51805101	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	4.409000	0.59768	1.445000	0.47624	0.563000	0.77884	GGA	ANKFN1	-	NULL	ENSG00000153930		0.522	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	-	0.00	57	0	G	NM_153228		54450102	+1	tier1	-	no_errors	ENST00000318698	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	C
ANKRD26P1	124149	genome.wustl.edu	37	16	46534659	46534659	+	RNA	SNP	T	T	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:46534659T>A	ENST00000571006.1	-	0	255							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TTTCGCAATTTTAATGTCCTC	0.353																																																	0																																												0			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46534659T>A				RNA	SNP	-	NULL	ENST00000571006.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	T	1.445	-0.566519	0.03910	.	.	ENSG00000155319	ENST00000329373	.	.	.	1.94	1.94	0.25998	.	.	.	.	.	T	0.32102	0.0818	.	.	.	.	.	.	P	0.42078	0.77	B	0.37692	0.256	T	0.46484	-0.9188	6	0.87932	D	0	.	7.8029	0.29185	0.0:0.0:0.0:1.0	.	32	Q68DM0	.	I	32	.	ENSP00000331873:K32I	K	-	2	0	ANKRD26P1	45092160	0.995000	0.38212	0.402000	0.26371	0.038000	0.13279	2.772000	0.47678	1.125000	0.41998	0.260000	0.18958	AAA	ANKRD26P1	-	-	ENSG00000261239		0.353	ANKRD26P1-007	KNOWN	basic	processed_transcript	ANKRD26P1	HGNC	pseudogene	OTTHUMT00000437932.1	-	0.00	76	0	T	NR_026556		46534659	-1	tier1	-	no_errors	ENST00000566201	ensembl	human	known	74_37	rna	20.00	28	7	SNP	0.970	A
ANKRD32	84250	genome.wustl.edu	37	5	94022349	94022349	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:94022349G>C	ENST00000265140.5	+	16	2466	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	683						centrosome (GO:0005813)|nucleus (GO:0005634)		p.E47Q(1)|p.E683Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTTGTTGCAGAGGCAGTCTT	0.393																																																	2	Substitution - Missense(2)	lung(2)											148.0	148.0	148.0					5																	94022349		2203	4300	6503	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2047G>C	5.37:g.94022349G>C	ENSP00000265140:p.Glu683Gln		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E683Q	ENST00000265140.5	37	c.2047	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820831	0.90873	.	.	ENSG00000133302	ENST00000265140	T	0.55588	0.51	5.63	5.63	0.86233	.	0.179631	0.50627	D	0.000119	T	0.67915	0.2944	L	0.47716	1.5	0.45515	D	0.998477	D	0.89917	1.0	D	0.68765	0.96	T	0.68383	-0.5423	10	0.72032	D	0.01	.	19.6448	0.95771	0.0:0.0:1.0:0.0	.	683	Q9BQI6	ANR32_HUMAN	Q	683	ENSP00000265140:E683Q	ENSP00000265140:E683Q	E	+	1	0	ANKRD32	94048105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.798000	0.96311	0.655000	0.94253	GAG	ANKRD32	-	NULL	ENSG00000133302		0.393	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	-	0.00	39	0	G	NM_032290		94022349	+1	tier1	-	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	C
ARAF	369	genome.wustl.edu	37	X	47424691	47424691	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chrX:47424691C>A	ENST00000377045.4	+	6	693	c.499C>A	c.(499-501)Cag>Aag	p.Q167K	ARAF_ENST00000377039.2_Missense_Mutation_p.Q167K|ARAF_ENST00000290277.6_Missense_Mutation_p.Q167K	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	167					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	AGGCTCCAGACAGCATGAGGC	0.577																																																	0													70.0	61.0	64.0					X																	47424691		2203	4300	6503	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.499C>A	X.37:g.47424691C>A	ENSP00000366244:p.Gln167Lys		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.Q167K	ENST00000377045.4	37	c.499	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	c	13.15	2.151778	0.38021	.	.	ENSG00000078061	ENST00000377045;ENST00000290277;ENST00000377039	T;D;D	0.94092	-0.74;-3.35;-3.34	5.52	4.63	0.57726	.	0.372637	0.30277	N	0.009987	D	0.89560	0.6750	L	0.51422	1.61	0.28322	N	0.922203	B;B	0.22276	0.032;0.067	B;B	0.21917	0.028;0.037	T	0.80747	-0.1244	10	0.31617	T	0.26	.	10.036	0.42129	0.0:0.7825:0.2175:0.0	.	167;33	P10398;B4DV85	ARAF_HUMAN;.	K	167	ENSP00000366244:Q167K;ENSP00000290277:Q167K;ENSP00000366238:Q167K	ENSP00000290277:Q167K	Q	+	1	0	ARAF	47309635	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	1.951000	0.40333	2.554000	0.86153	0.591000	0.81541	CAG	ARAF	-	NULL	ENSG00000078061		0.577	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	-	0.00	48	0	C			47424691	+1	tier1	-	no_errors	ENST00000377045	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.958	A
ABCB9	23457	genome.wustl.edu	37	12	123466182	123466184	+	5'UTR	DEL	CTC	CTC	-			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:123466182_123466184delCTC	ENST00000542678.1	-	0	12_14				ARL6IP4_ENST00000357866.4_In_Frame_Del_p.67_68SS>S|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.56_57SS>S|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.67_68SS>S|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.64_65SS>S|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.56_57SS>S|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.179_180SS>S|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.190_191SS>S|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.179_180SS>S|ARL6IP4_ENST00000315580.5_In_Frame_Del_p.198_199SS>S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CAAGATCCAGctcctcctcctct	0.567																																					Ovarian(49;786 1333 9175 38236)												0																																										SO:0001623	5_prime_UTR_variant	0			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.-2827GAG>-	12.37:g.123466191_123466193delCTC			B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	In_Frame_Del	DEL	pfam_Nucl_RNA-splicing_assoc_SR-25	p.S202in_frame_del	ENST00000542678.1	37	c.594_596	CCDS9241.1	12																																																																																			ARL6IP4	-	pfam_Nucl_RNA-splicing_assoc_SR-25	ENSG00000182196		0.567	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP4	HGNC	protein_coding	OTTHUMT00000400956.1		0.00	21	0	CTC	NM_019624		123466184	+1	tier1		no_errors	ENST00000315580	ensembl	human	known	74_37	in_frame_del	25.00	6	2	DEL	0.985:0.990:1.000	-
ASTE1	28990	genome.wustl.edu	37	3	130732925	130732925	+	Silent	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:130732925A>G	ENST00000264992.3	-	6	2457	c.2016T>C	c.(2014-2016)caT>caC	p.H672H	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000328560.8_Intron|ASTE1_ENST00000514044.1_Silent_p.H697H|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	672					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGGCCTCACTATGTTCCTCTA	0.388																																																	0													97.0	91.0	93.0					3																	130732925		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.2016T>C	3.37:g.130732925A>G			B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	pfam_XPG_DNA_repair_N	p.H672	ENST00000264992.3	37	c.2016	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.388	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0.00	17	0	A	NM_014065		130732925	-1			no_errors	ENST00000264992	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.000	G
ARMC8	25852	genome.wustl.edu	37	3	137991875	137991875	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:137991875C>T	ENST00000469044.1	+	17	1817	c.1546C>T	c.(1546-1548)Cta>Tta	p.L516L	NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000491704.1_Silent_p.L474L|ARMC8_ENST00000538260.1_Silent_p.L485L|ARMC8_ENST00000461822.1_Silent_p.L449L|ARMC8_ENST00000485396.1_Silent_p.L443L|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Silent_p.L502L|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000393058.3_Silent_p.L506L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	516										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACTGAACAGCTATTCCGGTT	0.368																																																	0													111.0	105.0	107.0					3																	137991875		1819	4084	5903	SO:0001819	synonymous_variant	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1546C>T	3.37:g.137991875C>T			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L516	ENST00000469044.1	37	c.1546		3																																																																																			ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114098		0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	-	0.00	45	0	C	NM_015396		137991875	+1	tier1	-	no_errors	ENST00000469044	ensembl	human	known	74_37	silent	23.53	26	8	SNP	1.000	T
ATP4A	495	genome.wustl.edu	37	19	36053377	36053377	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:36053377G>A	ENST00000262623.3	-	4	408	c.380C>T	c.(379-381)gCc>gTc	p.A127V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	127					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	AGCCTGGATGGCAAAGGCGAT	0.642																																																	0													66.0	51.0	56.0					19																	36053377		2203	4300	6503	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.380C>T	19.37:g.36053377G>A	ENSP00000262623:p.Ala127Val		O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.A127V	ENST00000262623.3	37	c.380	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	g	14.17	2.455777	0.43634	.	.	ENSG00000105675	ENST00000262623	D	0.87729	-2.29	3.81	1.42	0.22433	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.106070	0.07110	N	0.841988	T	0.80071	0.4556	N	0.25890	0.77	0.29527	N	0.853064	B	0.02656	0.0	B	0.04013	0.001	T	0.68903	-0.5286	10	0.40728	T	0.16	.	10.6996	0.45920	0.0:0.5561:0.4439:0.0	.	127	P20648	ATP4A_HUMAN	V	127	ENSP00000262623:A127V	ENSP00000262623:A127V	A	-	2	0	ATP4A	40745217	0.992000	0.36948	0.999000	0.59377	0.996000	0.88848	0.656000	0.24948	0.798000	0.33994	0.567000	0.79289	GCC	ATP4A	-	smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2		0.00	62	0	G	NM_000704		36053377	-1			no_errors	ENST00000262623	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.997	A
BHMT	635	genome.wustl.edu	37	5	78426767	78426767	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:78426767A>G	ENST00000274353.5	+	8	1156	c.1049A>G	c.(1048-1050)gAa>gGa	p.E350G	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.E197G	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	350					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCCAGGAAGGAATACTGGGAG	0.468																																																	0													121.0	127.0	125.0					5																	78426767		2203	4300	6503	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1049A>G	5.37:g.78426767A>G	ENSP00000274353:p.Glu350Gly		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.E350G	ENST00000274353.5	37	c.1049	CCDS4046.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.125204|4.125204	0.77436|0.77436	.|.	.|.	ENSG00000145692|ENSG00000145692	ENST00000274353;ENST00000524080|ENST00000436224	T;T|.	0.31769|.	1.48;1.48|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Homocysteine S-methyltransferase (2);|.	0.047245|.	0.85682|.	D|.	0.000000|.	T|T	0.71074|0.71074	0.3297|0.3297	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	P;B|.	0.49696|.	0.927;0.402|.	B;B|.	0.37198|.	0.243;0.177|.	T|T	0.74163|0.74163	-0.3754|-0.3754	10|6	0.28530|0.87932	T|D	0.3|0	-10.0019|-10.0019	15.7049|15.7049	0.77569|0.77569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	197;350|.	E5RJH0;Q93088|.	.;BHMT1_HUMAN|.	G|D	350;197|197	ENSP00000274353:E350G;ENSP00000428240:E197G|.	ENSP00000274353:E350G|ENSP00000405681:N197D	E|N	+|+	2|1	0|0	BHMT|BHMT	78462523|78462523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.287000|9.287000	0.95975|0.95975	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAA|AAT	BHMT	-	superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT	ENSG00000145692		0.468	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	-	0.00	42	0	A	NM_001713		78426767	+1	tier1	-	no_errors	ENST00000274353	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G
BMP3	651	genome.wustl.edu	37	4	81967471	81967471	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:81967471A>G	ENST00000282701.2	+	2	1216	c.896A>G	c.(895-897)aAc>aGc	p.N299S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	299					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTCTGCAGAACAACGAGCTT	0.532																																																	0													57.0	64.0	62.0					4																	81967471		2203	4298	6501	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.896A>G	4.37:g.81967471A>G	ENSP00000282701:p.Asn299Ser		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.N299S	ENST00000282701.2	37	c.896	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712745	0.68730	.	.	ENSG00000152785	ENST00000282701	T	0.75367	-0.93	5.16	5.16	0.70880	.	0.039037	0.85682	D	0.000000	D	0.84656	0.5520	M	0.79475	2.455	0.58432	D	0.999998	D	0.69078	0.997	D	0.63283	0.913	D	0.86645	0.1894	10	0.62326	D	0.03	.	14.9465	0.71035	1.0:0.0:0.0:0.0	.	299	P12645	BMP3_HUMAN	S	299	ENSP00000282701:N299S	ENSP00000282701:N299S	N	+	2	0	BMP3	82186495	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.437000	0.80417	2.072000	0.62099	0.533000	0.62120	AAC	BMP3	-	pirsf_BMP3/GDF10	ENSG00000152785		0.532	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1		0.00	24	0	A			81967471	+1			no_errors	ENST00000282701	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	G
BMPR1B	658	genome.wustl.edu	37	4	96070005	96070005	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:96070005T>G	ENST00000515059.1	+	11	1466	c.1183T>G	c.(1183-1185)Tac>Gac	p.Y395D	BMPR1B_ENST00000264568.4_Missense_Mutation_p.Y395D|BMPR1B_ENST00000394931.1_Missense_Mutation_p.Y395D|BMPR1B_ENST00000440890.2_Missense_Mutation_p.Y425D	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CTTCCAGTCTTACATCATGGC	0.443																																																	0													197.0	172.0	180.0					4																	96070005		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1183T>G	4.37:g.96070005T>G	ENSP00000426617:p.Tyr395Asp		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.Y425D	ENST00000515059.1	37	c.1273	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566954	0.86439	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116180	0.64402	D	0.000011	D	0.95443	0.8520	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95809	0.8840	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	395	O00238	BMR1B_HUMAN	D	395;395;395;425;395;395	ENSP00000426617:Y395D;ENSP00000425444:Y395D;ENSP00000421671:Y395D;ENSP00000401907:Y425D;ENSP00000264568:Y395D;ENSP00000378389:Y395D	ENSP00000264568:Y395D	Y	+	1	0	BMPR1B	96289028	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TAC	BMPR1B	-	pfam_Prot_kinase_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_dom	ENSG00000138696		0.443	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	-	0.00	99	0	T	NM_001203		96070005	+1	tier1	-	no_errors	ENST00000440890	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.999	G
C11orf24	53838	genome.wustl.edu	37	11	68030003	68030003	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:68030003T>C	ENST00000304271.6	-	4	862	c.460A>G	c.(460-462)Atg>Gtg	p.M154V	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	154						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GCCGCAGTCATACTGGAGGCT	0.642																																					NSCLC(21;855 905 4198 36694)												0													41.0	41.0	41.0					11																	68030003		2200	4294	6494	SO:0001583	missense	0			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.460A>G	11.37:g.68030003T>C	ENSP00000307264:p.Met154Val		Q9H2K4	Missense_Mutation	SNP	NULL	p.M154V	ENST00000304271.6	37	c.460	CCDS8180.1	11	.	.	.	.	.	.	.	.	.	.	-	0.046	-1.266998	0.01433	.	.	ENSG00000171067	ENST00000304271	T	0.27720	1.65	0.711	-1.42	0.08913	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.25813	-1.0121	9	0.27082	T	0.32	.	3.3191	0.07044	0.0:0.0:0.4367:0.5633	.	154	Q96F05	CK024_HUMAN	V	154	ENSP00000307264:M154V	ENSP00000307264:M154V	M	-	1	0	C11orf24	67786579	0.011000	0.17503	0.001000	0.08648	0.019000	0.09904	0.099000	0.15210	-0.492000	0.06687	0.092000	0.15492	ATG	C11orf24	-	NULL	ENSG00000171067		0.642	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf24	HGNC	protein_coding	OTTHUMT00000394750.1	-	0.00	146	0	T	NM_022338		68030003	-1	tier1	-	no_errors	ENST00000304271	ensembl	human	known	74_37	missense	24.21	72	23	SNP	0.003	C
C12orf50	160419	genome.wustl.edu	37	12	88380170	88380170	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:88380170T>G	ENST00000298699.2	-	10	1021	c.841A>C	c.(841-843)Aag>Cag	p.K281Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.K242Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	281										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAATGAGGCTTCTTCACTGGC	0.323																																																	0													103.0	105.0	104.0					12																	88380170		2202	4300	6502	SO:0001583	missense	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.841A>C	12.37:g.88380170T>G	ENSP00000298699:p.Lys281Gln		Q6P674	Missense_Mutation	SNP	NULL	p.K281Q	ENST00000298699.2	37	c.841	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966346	0.74131	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.48201	0.84;0.82	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.76574	2.34	0.36984	D	0.894455	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75651	-0.3244	10	0.59425	D	0.04	.	14.0517	0.64742	0.0:0.0:0.0:1.0	.	296;281	G3V208;Q8NA57	.;CL050_HUMAN	Q	281;242;296	ENSP00000298699:K281Q;ENSP00000448344:K242Q	ENSP00000298699:K281Q	K	-	1	0	C12orf50	86904301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.935000	0.48963	2.307000	0.77673	0.528000	0.53228	AAG	C12orf50	-	NULL	ENSG00000165805		0.323	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	-	0.00	74	0	T	NM_152589		88380170	-1	tier1	-	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G
CFAP54	144535	genome.wustl.edu	37	12	97051988	97051988	+	Splice_Site	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:97051988G>C	ENST00000524981.4	+	38	5347		c.e38-1					Q96N23	CL055_HUMAN																			CCCCTGTCTAGTGAGAGGTAT	0.378																																																	0													87.0	87.0	87.0					12																	97051988		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000524981.4:c.5325-1G>C	12.37:g.97051988G>C				Splice_Site	SNP	-	e38-1	ENST00000524981.4	37	c.5325-1		12	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731832	0.69189	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.071	0.93136	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95576119	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.660000	0.74417	2.581000	0.87130	0.462000	0.41574	.	C12orf55	-	-	ENSG00000188596		0.378	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0.00	32	0	G		Intron	97051988	+1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	splice_site	32.35	23	11	SNP	1.000	C
C16orf71	146562	genome.wustl.edu	37	16	4793092	4793093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:4793092_4793093insA	ENST00000299320.5	+	5	1310_1311	c.832_833insA	c.(832-834)caafs	p.Q278fs	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Frame_Shift_Ins_p.Q292fs	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	278										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGGCGGGACAAGAAGACAAC	0.52																																																	0																																										SO:0001589	frameshift_variant	0			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.834dupA	16.37:g.4793094_4793094dupA	ENSP00000299320:p.Gln278fs		Q8NCV0	Frame_Shift_Ins	INS	NULL	p.E279fs	ENST00000299320.5	37	c.832_833	CCDS10521.1	16																																																																																			C16orf71	-	NULL	ENSG00000166246		0.520	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf71	HGNC	protein_coding	OTTHUMT00000251644.1		0.00	30	0	-	NM_139170		4793093	+1	tier1		no_errors	ENST00000299320	ensembl	human	known	74_37	frame_shift_ins	27.50	29	11	INS	0.002:0.000	A
C5orf24	134553	genome.wustl.edu	37	5	134190864	134190864	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:134190864C>T	ENST00000394976.3	+	2	502	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	C5orf24_ENST00000504727.1_Missense_Mutation_p.R92W|C5orf24_ENST00000435259.2_Missense_Mutation_p.R92W|C5orf24_ENST00000338051.4_Missense_Mutation_p.R92W	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	92								p.R92W(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAGCGTGGCCGGCCTTCGGG	0.478																																																	1	Substitution - Missense(1)	endometrium(1)											71.0	81.0	77.0					5																	134190864		2203	4300	6503	SO:0001583	missense	0			BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.274C>T	5.37:g.134190864C>T	ENSP00000378427:p.Arg92Trp		D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	NULL	p.R92W	ENST00000394976.3	37	c.274	CCDS4179.1	5	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406081	0.62288	.	.	ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000504727;ENST00000435259	.	.	.	5.98	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67745	-0.5591	9	0.87932	D	0	-7.6865	13.8944	0.63761	0.2579:0.7421:0.0:0.0	.	92;92	Q7Z6I8-2;Q7Z6I8	.;CE024_HUMAN	W	92	.	ENSP00000337044:R92W	R	+	1	2	C5orf24	134218763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.231000	0.51294	2.838000	0.97847	0.655000	0.94253	CGG	C5orf24	-	NULL	ENSG00000181904		0.478	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf24	HGNC	protein_coding	OTTHUMT00000251167.1	-	0.00	35	0	C	NM_152409		134190864	+1	tier1	-	no_errors	ENST00000338051	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T
C6orf106	64771	genome.wustl.edu	37	6	34574629	34574629	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:34574629C>T	ENST00000374023.3	-	4	807	c.564G>A	c.(562-564)acG>acA	p.T188T	C6orf106_ENST00000374026.3_Silent_p.T122T|C6orf106_ENST00000374021.1_Silent_p.T114T	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	188										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						ACAGCTGCTGCGTTACTCCTA	0.458																																																	0													78.0	69.0	72.0					6																	34574629		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.564G>A	6.37:g.34574629C>T			B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	superfamily_UBA-like	p.T188	ENST00000374023.3	37	c.564	CCDS4796.1	6																																																																																			C6orf106	-	NULL	ENSG00000196821		0.458	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf106	HGNC	protein_coding	OTTHUMT00000040251.1		0.00	79	0	C	NM_022758		34574629	-1			no_errors	ENST00000374023	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.999	T
CABIN1	23523	genome.wustl.edu	37	22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	rs148592192		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr22:24483514G>A	ENST00000398319.2	+	23	3758	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_ENST00000405822.2_Missense_Mutation_p.V1075I|CABIN1_ENST00000263119.5_Missense_Mutation_p.V1125I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577																																																	0								G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96.0	79.0	85.0		3373,3223,3373	4.1	0.7	22	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1125/2221,1075/2171,1125/2221	24483514	1,13005	2203	4300	6503	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3373G>A	22.37:g.24483514G>A	ENSP00000381364:p.Val1125Ile		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1125I	ENST00000398319.2	37	c.3373	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938576	0.52972	2.27E-4	0.0	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75589	-0.95;-0.95;-0.95	5.1	4.09	0.47781	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.42245	1.32	0.80722	D	1	B;B	0.30793	0.295;0.036	B;B	0.17433	0.018;0.008	T	0.64437	-0.6408	10	0.48119	T	0.1	.	13.0002	0.58670	0.078:0.0:0.922:0.0	.	1075;1125	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1125;1075;1125	ENSP00000263119:V1125I;ENSP00000384694:V1075I;ENSP00000381364:V1125I	ENSP00000263119:V1125I	V	+	1	0	CABIN1	22813514	1.000000	0.71417	0.708000	0.30435	0.331000	0.28603	7.919000	0.87513	1.318000	0.45170	-0.142000	0.14014	GTC	CABIN1	-	NULL	ENSG00000099991		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0.00	51	0	G	NM_012295		24483514	+1	tier1	rs148592192	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.996	A
CACNA1C	775	genome.wustl.edu	37	12	2676738	2676738	+	Missense_Mutation	SNP	C	C	T	rs572234918	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:2676738C>T	ENST00000347598.4	+	13	1673	c.1673C>T	c.(1672-1674)aCg>aTg	p.T558M	CACNA1C_ENST00000399617.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T558M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T558M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T558M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T558M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T583M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	558					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCCAGACACGGCAAACAAG	0.567													C|||	3	0.000599042	0.0	0.0	5008	,	,		20244	0.001		0.0	False		,,,				2504	0.002																0													18.0	20.0	19.0					12																	2676738		2094	4249	6343	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1673C>T	12.37:g.2676738C>T	ENSP00000266376:p.Thr558Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T558M	ENST00000347598.4	37	c.1673	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614597	0.46631	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.07	4.17	0.49024	.	0.109676	0.64402	D	0.000008	D	0.96636	0.8902	N	0.25890	0.77	0.44439	D	0.997369	D;D;P;D;D;D;D;B;D;D;D;D;D;D;D;D;B;D;B;D;D;D;D;P;D	0.89917	1.0;0.985;0.455;1.0;0.995;0.993;0.995;0.4;0.978;0.995;0.993;0.963;0.991;0.988;0.996;0.996;0.273;0.99;0.273;0.993;0.99;0.99;0.993;0.882;0.993	D;P;B;D;P;P;P;B;P;P;P;P;P;P;D;P;B;P;B;P;P;P;P;B;P	0.85130	0.997;0.599;0.153;0.997;0.872;0.759;0.872;0.094;0.536;0.872;0.681;0.536;0.9;0.727;0.921;0.759;0.04;0.686;0.04;0.759;0.831;0.769;0.681;0.407;0.759	D	0.96264	0.9193	10	0.42905	T	0.14	.	13.4844	0.61357	0.0:0.9247:0.0:0.0753	.	558;555;558;558;558;558;558;558;558;558;558;529;558;558;558;558;558;558;558;558;558;558;558;558;558	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	583;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;399	ENSP00000336982:T583M;ENSP00000382563:T558M;ENSP00000437936:T558M;ENSP00000382552:T558M;ENSP00000382547:T558M;ENSP00000382506:T558M;ENSP00000382530:T558M;ENSP00000382546:T558M;ENSP00000382500:T558M;ENSP00000382549:T558M;ENSP00000266376:T558M;ENSP00000382515:T558M;ENSP00000382510:T558M;ENSP00000341092:T558M;ENSP00000382537:T558M;ENSP00000329877:T558M;ENSP00000382557:T558M;ENSP00000385724:T558M;ENSP00000382512:T558M;ENSP00000382542:T558M;ENSP00000382526:T558M;ENSP00000385896:T558M;ENSP00000382504:T558M	ENSP00000323129:T399M	T	+	2	0	CACNA1C	2546999	1.000000	0.71417	0.872000	0.34217	0.411000	0.31082	3.885000	0.56182	1.356000	0.45884	0.462000	0.41574	ACG	CACNA1C	-	NULL	ENSG00000151067		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0.00	22	0	C	NM_000719		2676738	+1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.990	T
CAPN3	825	genome.wustl.edu	37	15	42703106	42703106	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:42703106A>G	ENST00000397163.3	+	22	2507	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.Y670C|CAPN3_ENST00000397200.4_Missense_Mutation_p.Y251C|CAPN3_ENST00000318023.7_Missense_Mutation_p.Y757C|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000397204.4_Missense_Mutation_p.Y98C|CAPN3_ENST00000569136.1_Missense_Mutation_p.Y98C|CAPN3_ENST00000561817.1_Missense_Mutation_p.Y98C|CAPN3_ENST00000357568.3_Missense_Mutation_p.Y757C|CAPN3_ENST00000337571.4_Missense_Mutation_p.Y98C|CAPN3_ENST00000349748.3_Missense_Mutation_p.Y671C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	763	Domain IV.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACCAGCTCTATGACATCATT	0.522																																																	0			GRCh37	CM994482	CAPN3	M							200.0	164.0	176.0					15																	42703106		2203	4299	6502	SO:0001583	missense	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2288A>G	15.37:g.42703106A>G	ENSP00000380349:p.Tyr763Cys		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y763C	ENST00000397163.3	37	c.2288	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653480	0.88056	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.64402	U	0.000001	D	0.95940	0.8678	L	0.46885	1.475	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0;0.999;0.984	D	0.96083	0.9055	10	0.54805	T	0.06	.	15.5839	0.76468	1.0:0.0:0.0:0.0	.	628;676;98;671;757;763;670	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	C	670;251;763;757;671;757;251;98;98	ENSP00000348667:Y670C;ENSP00000380349:Y763C;ENSP00000350181:Y757C;ENSP00000183936:Y671C;ENSP00000326281:Y757C;ENSP00000380384:Y251C;ENSP00000336840:Y98C;ENSP00000380387:Y98C	ENSP00000326281:Y757C	Y	+	2	0	CAPN3	40490398	1.000000	0.71417	0.938000	0.37757	0.935000	0.57460	9.139000	0.94554	2.274000	0.75844	0.533000	0.62120	TAT	CAPN3	-	NULL	ENSG00000092529		0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	-	0.00	54	0	A			42703106	+1	tier1	-	no_errors	ENST00000397163	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.999	G
CBR3	874	genome.wustl.edu	37	21	37504209	37504210	+	IGR	INS	-	-	AAAT	rs370019892|rs34772963|rs369958192	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr21:37504209_37504210insAAAT	ENST00000290354.5	+	0	0				CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TACACAACTCAaaataaataaa	0.243														4461	0.890775	0.9849	0.8242	5008	,	,		9529	0.8403		0.8857	False		,,,				2504	0.8681																0																																										SO:0001628	intergenic_variant	0			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37504214_37504217dupAAAT			Q6FHP2	RNA	INS	-	NULL	ENST00000290354.5	37	NULL	CCDS13642.1	21																																																																																			CBR3-AS1	-	-	ENSG00000236830		0.243	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3-AS1	HGNC	protein_coding	OTTHUMT00000194632.1		0.00	8	0	0			37504210	-1			no_errors	ENST00000413862	ensembl	human	known	74_37	rna	28.57	5	2	INS	0.997:0.993	AAAT
CCDC47	57003	genome.wustl.edu	37	17	61831840	61831840	+	Silent	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:61831840T>C	ENST00000225726.5	-	9	1369	c.987A>G	c.(985-987)gaA>gaG	p.E329E	CCDC47_ENST00000582252.1_Silent_p.E329E|RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Silent_p.E329E	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	329					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AATGAACAGATTCAATCTTGT	0.299																																																	0													53.0	55.0	54.0					17																	61831840		2203	4300	6503	SO:0001819	synonymous_variant	0			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.987A>G	17.37:g.61831840T>C			B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Silent	SNP	pfam_DUF1682	p.E329	ENST00000225726.5	37	c.987	CCDS11643.1	17																																																																																			CCDC47	-	pfam_DUF1682	ENSG00000108588		0.299	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2		0.00	14	0	T	NM_020198		61831840	-1			no_errors	ENST00000225726	ensembl	human	known	74_37	silent	33.33	6	3	SNP	1.000	C
CCDC6	8030	genome.wustl.edu	37	10	61552831	61552831	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:61552831G>C	ENST00000263102.6	-	9	1500	c.1269C>G	c.(1267-1269)ttC>ttG	p.F423L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	423						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGGGCCGTTTGAATTTGTCAG	0.597			T	RET	NSCLC																																			Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													156.0	147.0	150.0					10																	61552831		2203	4300	6503	SO:0001583	missense	0			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1269C>G	10.37:g.61552831G>C	ENSP00000263102:p.Phe423Leu		Q15250|Q6GSG7	Missense_Mutation	SNP	pfam_DUF2046	p.F423L	ENST00000263102.6	37	c.1269	CCDS7257.1	10	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779410	0.49891	.	.	ENSG00000108091	ENST00000263102	T	0.53640	0.61	5.39	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.56769	1.78	0.58432	D	0.999996	P	0.49447	0.924	P	0.60682	0.878	T	0.57985	-0.7716	10	0.72032	D	0.01	-14.9365	8.982	0.35970	0.3248:0.0:0.6752:0.0	.	423	Q16204	CCDC6_HUMAN	L	423	ENSP00000263102:F423L	ENSP00000263102:F423L	F	-	3	2	CCDC6	61222837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.848000	0.48278	0.739000	0.32628	0.563000	0.77884	TTC	CCDC6	-	NULL	ENSG00000108091		0.597	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC6	HGNC	protein_coding	OTTHUMT00000048176.2	-	0.00	106	0	G	NM_005436		61552831	-1	tier1	-	no_errors	ENST00000263102	ensembl	human	known	74_37	missense	6.42	102	7	SNP	1.000	C
CCDC80	151887	genome.wustl.edu	37	3	112349104	112349104	+	Missense_Mutation	SNP	G	G	T	rs139735741		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:112349104G>T	ENST00000206423.3	-	3	2844	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	CCDC80_ENST00000439685.2_Missense_Mutation_p.P631T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	631					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCAGCCTTGGGAGCAGTGATC	0.423																																																	0													151.0	140.0	144.0					3																	112349104		2203	4300	6503	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1891C>A	3.37:g.112349104G>T	ENSP00000206423:p.Pro631Thr		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.P631T	ENST00000206423.3	37	c.1891	CCDS2968.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418947|4.418947	0.83559|0.83559	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594|ENST00000461431	T;T|.	0.52057|.	0.68;0.68|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81669|0.81669	0.4871|0.4871	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.82143|0.82143	-0.0603|-0.0603	10|5	0.87932|.	D|.	0|.	-17.648|-17.648	19.3382|19.3382	0.94329|0.94329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	642;631;631|.	Q76M96-2;A3KC71;Q76M96|.	.;.;CCD80_HUMAN|.	T|Y	631;631;259|28	ENSP00000206423:P631T;ENSP00000411814:P631T|.	ENSP00000206423:P631T|.	P|S	-|-	1|2	0|0	CCDC80|CCDC80	113831794|113831794	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.913000|0.913000	0.54294|0.54294	9.378000|9.378000	0.97191|0.97191	2.643000|2.643000	0.89663|0.89663	0.460000|0.460000	0.39030|0.39030	CCC|TCC	CCDC80	-	NULL	ENSG00000091986		0.423	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1		0.00	51	0	G	NM_199511		112349104	-1			no_errors	ENST00000206423	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T
CDH11	1009	genome.wustl.edu	37	16	64981513	64981513	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:64981513T>C	ENST00000268603.4	-	13	2999	c.2384A>G	c.(2383-2385)gAt>gGt	p.D795G	CDH11_ENST00000566827.1_Missense_Mutation_p.D669G|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	795					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGTTAAGAATCGTCATCAAA	0.358			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													78.0	74.0	75.0					16																	64981513		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2384A>G	16.37:g.64981513T>C	ENSP00000268603:p.Asp795Gly		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D795G	ENST00000268603.4	37	c.2384	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607449	0.46527	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.58506	0.33	6.03	6.03	0.97812	.	0.044190	0.85682	D	0.000000	T	0.41558	0.1164	N	0.12182	0.205	0.58432	D	0.999999	P	0.42456	0.78	B	0.38106	0.265	T	0.46857	-0.9161	10	0.49607	T	0.09	.	15.7413	0.77899	0.0:0.0:0.0:1.0	.	795	P55287	CAD11_HUMAN	G	795;778	ENSP00000268603:D795G	ENSP00000268603:D795G	D	-	2	0	CDH11	63539014	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.965000	0.76067	2.313000	0.78055	0.454000	0.30748	GAT	CDH11	-	NULL	ENSG00000140937		0.358	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	59	0	T	NM_033664		64981513	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	C
CEP128	145508	genome.wustl.edu	37	14	81362115	81362115	+	Missense_Mutation	SNP	T	T	C	rs369445029	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:81362115T>C	ENST00000555265.1	-	8	967	c.592A>G	c.(592-594)Agg>Ggg	p.R198G	CEP128_ENST00000281129.3_Missense_Mutation_p.R198G|CEP128_ENST00000216517.6_Missense_Mutation_p.R198G|CEP128_ENST00000327841.2_Missense_Mutation_p.R138G			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	198						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCAAAGCCCTTTTTGTTTCG	0.294													T|||	4	0.000798722	0.0	0.0	5008	,	,		13149	0.003		0.0	False		,,,				2504	0.001																0													69.0	65.0	66.0					14																	81362115		2192	4287	6479	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.592A>G	14.37:g.81362115T>C	ENSP00000451162:p.Arg198Gly		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.R198G	ENST00000555265.1	37	c.592	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204753	0.58234	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841	T;T;T	0.57273	1.01;1.01;0.41	5.84	5.84	0.93424	.	0.314743	0.27715	N	0.018155	T	0.43743	0.1261	L	0.27053	0.805	0.39290	D	0.964713	P;P;P	0.46142	0.873;0.787;0.59	B;B;B	0.42361	0.385;0.372;0.286	T	0.51252	-0.8729	10	0.59425	D	0.04	.	13.7492	0.62897	0.0:0.0:0.0:1.0	.	198;79;198	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	G	198;198;198;198;138	ENSP00000281129:R198G;ENSP00000451162:R198G;ENSP00000216517:R198G	ENSP00000216517:R198G	R	-	1	2	CEP128	80431868	0.999000	0.42202	0.998000	0.56505	0.840000	0.47671	3.272000	0.51616	2.230000	0.72887	0.528000	0.53228	AGG	CEP128	-	NULL	ENSG00000100629		0.294	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	-	0.00	79	0	T	NM_152446		81362115	-1	tier1	-	no_errors	ENST00000281129	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	C
CEP192	55125	genome.wustl.edu	37	18	13030462	13030462	+	Splice_Site	SNP	A	A	G	rs568015143		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:13030462A>G	ENST00000325971.8	+	11	1470		c.e11-1		CEP192_ENST00000430049.2_Splice_Site|CEP192_ENST00000506447.1_Splice_Site			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTATTTTTTAGAAACAGATC	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		18871	0.0		0.0	False		,,,				2504	0.001																0													52.0	46.0	48.0					18																	13030462		692	1589	2281	SO:0001630	splice_region_variant	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.-123-1A>G	18.37:g.13030462A>G			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Splice_Site	SNP	-	e10-2	ENST00000325971.8	37	c.1391-2		18	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271732	0.40194	.	.	ENSG00000101639	ENST00000506447;ENST00000430049	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.35	0.55143	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP192	13020462	1.000000	0.71417	0.940000	0.37924	0.486000	0.33341	3.129000	0.50500	1.980000	0.57719	0.260000	0.18958	.	CEP192	-	-	ENSG00000101639		0.308	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		-	0.00	42	0	A	NM_032142	Intron	13030462	+1	tier1	-	no_errors	ENST00000506447	ensembl	human	known	74_37	splice_site	15.38	33	6	SNP	1.000	G
CIB4	130106	genome.wustl.edu	37	2	26846333	26846333	+	Intron	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:26846333C>T	ENST00000288861.4	-	3	240				CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4								calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATCGCTTTCAGCCTTGGGA	0.378																																																	0																																										SO:0001627	intron_variant	0				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.186+5944G>A	2.37:g.26846333C>T			B2RU18	RNA	SNP	-	NULL	ENST00000288861.4	37	NULL	CCDS33160.1	2																																																																																			CIB4	-	-	ENSG00000157884		0.378	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	-	0.00	35	0	C			26846333	-1	tier1	-	no_errors	ENST00000405346	ensembl	human	known	74_37	rna	14.81	23	4	SNP	0.000	T
CLCA3P	9629	genome.wustl.edu	37	1	87101709	87101709	+	RNA	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:87101709G>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TATGGACAATGTGGAGATAAA	0.348																																																	0													108.0	108.0	108.0					1																	87101709		2203	4299	6502			0																															1.37:g.87101709G>T				RNA	SNP	-	NULL	ENST00000456587.1	37	NULL		1																																																																																			CLCA3P	-	-	ENSG00000153923		0.348	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	CLCA3P	HGNC	antisense	OTTHUMT00000028263.1	-	0.00	62	0	G			87101709	+1	tier1	-	no_errors	ENST00000284054	ensembl	human	known	74_37	rna	15.00	17	3	SNP	1.000	T
CNTN2	6900	genome.wustl.edu	37	1	205042860	205042860	+	Silent	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:205042860G>T	ENST00000331830.4	+	23	3374	c.3090G>T	c.(3088-3090)gcG>gcT	p.A1030A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1030					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTCCGTGGCGATGCTGATCC	0.622																																					Melanoma(183;2548 2817 37099 41192)												0													123.0	95.0	104.0					1																	205042860		2203	4300	6503	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.3090G>T	1.37:g.205042860G>T			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1030	ENST00000331830.4	37	c.3090	CCDS1449.1	1																																																																																			CNTN2	-	NULL	ENSG00000184144		0.622	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0.00	28	0	G	NM_005076		205042860	+1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125192188	125192188	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:125192188C>A	ENST00000431078.1	+	5	1021	c.657C>A	c.(655-657)ttC>ttA	p.F219L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	219	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGTCCTGTTCCATGGAGAAG	0.502																																																	0													86.0	87.0	87.0					2																	125192188		2087	4228	6315	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.657C>A	2.37:g.125192188C>A	ENSP00000399013:p.Phe219Leu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F219L	ENST00000431078.1	37	c.657	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	5.146	0.212472	0.09757	.	.	ENSG00000155052	ENST00000431078	T	0.69435	-0.4	5.48	1.65	0.23941	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.128694	0.34725	N	0.003721	T	0.28962	0.0719	N	0.01091	-1.02	0.42024	D	0.990996	B	0.18968	0.032	B	0.22152	0.038	T	0.35500	-0.9786	10	0.02654	T	1	.	8.9488	0.35776	0.0:0.642:0.0:0.358	.	219	Q8WYK1	CNTP5_HUMAN	L	219	ENSP00000399013:F219L	ENSP00000399013:F219L	F	+	3	2	CNTNAP5	124908658	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	1.220000	0.32491	0.023000	0.15187	0.655000	0.94253	TTC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	39	0	C			125192188	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	A
CREBBP	1387	genome.wustl.edu	37	16	3820633	3820633	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:3820633C>A	ENST00000262367.5	-	14	3627	c.2818G>T	c.(2818-2820)Gct>Tct	p.A940S	CREBBP_ENST00000382070.3_Missense_Mutation_p.A902S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	940					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGGGGTAGCCACAGACGGG	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													94.0	115.0	108.0					16																	3820633		2197	4300	6497	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2818G>T	16.37:g.3820633C>A	ENSP00000262367:p.Ala940Ser		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A940S	ENST00000262367.5	37	c.2818	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729589	0.48833	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83075	-1.68;-1.6	5.69	4.74	0.60224	.	0.175198	0.42053	D	0.000767	T	0.59293	0.2183	N	0.02539	-0.55	0.44754	D	0.997752	B;B	0.18013	0.025;0.025	B;B	0.18561	0.022;0.022	T	0.59669	-0.7411	10	0.02654	T	1	-12.3133	13.6232	0.62149	0.0:0.4481:0.5519:0.0	.	970;940	Q4LE28;Q92793	.;CBP_HUMAN	S	940;970;902	ENSP00000262367:A940S;ENSP00000371502:A902S	ENSP00000262367:A940S	A	-	1	0	CREBBP	3760634	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.389000	0.59639	1.543000	0.49345	0.655000	0.94253	GCT	CREBBP	-	NULL	ENSG00000005339		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0.00	41	0	C	NM_004380		3820633	-1			no_errors	ENST00000262367	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16952971	16952971	+	lincRNA	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:16952971G>A	ENST00000412962.1	-	0	645							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGGAGAGCTCGAGCTCCATGC	0.627																																																	0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952971G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.627	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	-	0.00	119	0	G	NR_026752.1		16952971	-1	tier1	-	no_errors	ENST00000412962	ensembl	human	known	74_37	rna	5.93	111	7	SNP	0.805	A
CTAGE5	4253	genome.wustl.edu	37	14	39777653	39777653	+	Splice_Site	SNP	A	A	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:39777653A>T	ENST00000280083.3	+	13	1369	c.1055A>T	c.(1054-1056)gAg>gTg	p.E352V	CTAGE5_ENST00000341749.3_Splice_Site_p.E340V|CTAGE5_ENST00000557038.1_Splice_Site_p.E272V|CTAGE5_ENST00000396158.2_Splice_Site_p.E357V|CTAGE5_ENST00000556148.1_Splice_Site_p.E277V|CTAGE5_ENST00000396165.4_Splice_Site_p.E323V|CTAGE5_ENST00000553352.1_Splice_Site_p.E323V|RP11-407N17.3_ENST00000553728.1_Splice_Site_p.E887V|CTAGE5_ENST00000341502.5_Splice_Site_p.E352V|CTAGE5_ENST00000348007.3_Splice_Site_p.E352V|RP11-407N17.3_ENST00000603904.1_Splice_Site_p.E323V			O15320	CTGE5_HUMAN	CTAGE family, member 5	352					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTTATATAGAGCATATTAAA	0.239																																																	0													17.0	19.0	18.0					14																	39777653		2040	4103	6143	SO:0001630	splice_region_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1055-1A>T	14.37:g.39777653A>T			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.E357V	ENST00000280083.3	37	c.1070	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328429	0.81690	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79247	2.77;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;0.8;-1.25	5.25	2.57	0.30868	.	.	.	.	.	D	0.85279	0.5660	M	0.81497	2.545	0.36305	D	0.857306	D;D;D;D;D;D	0.63046	0.973;0.991;0.982;0.991;0.992;0.991	P;P;D;P;D;P	0.66497	0.886;0.907;0.931;0.848;0.944;0.848	D	0.86702	0.1930	8	.	.	.	.	8.852	0.35206	0.8199:0.0:0.1801:0.0	.	314;357;352;352;323;340	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	V	887;340;272;314;323;352;357;352;277;352;323	ENSP00000452252:E887V;ENSP00000343897:E340V;ENSP00000450869:E272V;ENSP00000379468:E323V;ENSP00000339286:E352V;ENSP00000379462:E357V;ENSP00000280083:E352V;ENSP00000452562:E277V;ENSP00000343912:E352V;ENSP00000450449:E323V	.	E	+	2	0	CTAGE5;RP11-407N17.3	38847404	1.000000	0.71417	0.210000	0.23637	0.833000	0.47200	4.740000	0.62087	0.859000	0.35456	0.477000	0.44152	GAG	CTAGE5	-	NULL	ENSG00000150527		0.239	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	-	0.00	60	0	A	NM_005930	Missense_Mutation	39777653	+1	tier1	-	no_errors	ENST00000396158	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.589	T
CXXC4	80319	genome.wustl.edu	37	4	105412091	105412091	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:105412091G>C	ENST00000426831.1	-	1	376	c.362C>G	c.(361-363)tCc>tGc	p.S121C	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_Missense_Mutation_p.S290C|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	121	Poly-Ser.				negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CCCTGAGGAGGACGAGGAGGA	0.602																																																	0													71.0	77.0	75.0					4																	105412091		2203	4300	6503	SO:0001583	missense	0				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.362C>G	4.37:g.105412091G>C	ENSP00000412267:p.Ser121Cys			Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S290C	ENST00000426831.1	37	c.869		4	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142658	0.57044	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.7	4.7	0.59300	.	86.564400	0.05759	U	0.604542	T	0.40015	0.1100	N	0.08118	0	0.37177	D	0.903329	B	0.32693	0.38	B	0.31751	0.135	T	0.20907	-1.0261	9	0.46703	T	0.11	-4.4503	15.7738	0.78193	0.0:0.0:1.0:0.0	.	121	Q9H2H0	CXXC4_HUMAN	C	121	.	ENSP00000378248:S121C	S	-	2	0	CXXC4	105631540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.077000	0.57598	2.315000	0.78130	0.585000	0.79938	TCC	CXXC4	-	NULL	ENSG00000168772		0.602	CXXC4-201	KNOWN	basic	protein_coding	CXXC4	HGNC	protein_coding		-	0.00	67	0	G	NM_025212		105412091	-1	tier1	-	no_errors	ENST00000394767	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	C
DET1	55070	genome.wustl.edu	37	15	89074239	89074239	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:89074239G>A	ENST00000268148.8	-	2	843	c.698C>T	c.(697-699)tCt>tTt	p.S233F	DET1_ENST00000444300.1_Missense_Mutation_p.S244F|DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.S244F|DET1_ENST00000559656.1_5'Flank	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	233						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGTTGCACAGACAAGATGGC	0.502																																																	0													78.0	77.0	78.0					15																	89074239		2025	4200	6225	SO:0001583	missense	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.698C>T	15.37:g.89074239G>A	ENSP00000268148:p.Ser233Phe		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.S244F	ENST00000268148.8	37	c.731	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450801	0.84209	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86259	0.1654	9	0.87932	D	0	-21.9976	19.8676	0.96824	0.0:0.0:1.0:0.0	.	233;244	Q7L5Y6;B3KNN6	DET1_HUMAN;.	F	244;233	.	ENSP00000268148:S233F	S	-	2	0	DET1	86875243	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	9.120000	0.94369	2.941000	0.99782	0.655000	0.94253	TCT	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.502	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	-	0.00	93	0	G	NM_017996		89074239	-1	tier1	-	no_errors	ENST00000444300	ensembl	human	known	74_37	missense	33.33	54	27	SNP	1.000	A
DLG2	1740	genome.wustl.edu	37	11	83962299	83962299	+	Silent	SNP	A	A	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:83962299A>T	ENST00000532653.1	-	3	542	c.240T>A	c.(238-240)acT>acA	p.T80T	DLG2_ENST00000531015.1_Silent_p.T47T|DLG2_ENST00000280241.8_Silent_p.T119T|DLG2_ENST00000376104.2_Silent_p.T185T|DLG2_ENST00000543673.1_Silent_p.T185T|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000398301.2_Silent_p.T119T|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000524982.1_Silent_p.T80T|DLG2_ENST00000330014.6_Silent_p.T19T|DLG2_ENST00000398309.2_Silent_p.T80T|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0				E -> G (in Ref. 4; CAI56746). {ECO:0000305}.	nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGTGTCCAAAGTATCTGTGT	0.289																																																	0													57.0	52.0	54.0					11																	83962299		1805	4072	5877	SO:0001819	synonymous_variant	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.240T>A	11.37:g.83962299A>T			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.T185	ENST00000532653.1	37	c.555		11																																																																																			DLG2	-	pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.289	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	20	0	A	NM_001364		83962299	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	silent	100.00	0	5	SNP	0.999	T
DPYD	1806	genome.wustl.edu	37	1	97658623	97658623	+	Splice_Site	SNP	A	A	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:97658623A>C	ENST00000370192.3	-	20	2723		c.e20+1		DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTAAGCACATACCTTGTCCAT	0.418																																																	0													184.0	160.0	168.0					1																	97658623		2203	4300	6503	SO:0001630	splice_region_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2622+1T>G	1.37:g.97658623A>C			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Splice_Site	SNP	-	e20+2	ENST00000370192.3	37	c.2622+2	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133356	0.21041	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1671	0.81777	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPYD	97431211	1.000000	0.71417	0.999000	0.59377	0.062000	0.15995	7.783000	0.85696	2.224000	0.72417	0.528000	0.53228	.	DPYD	-	-	ENSG00000188641		0.418	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	-	0.00	66	0	A	NM_000110	Intron	97658623	-1	tier1	-	no_errors	ENST00000370192	ensembl	human	known	74_37	splice_site	11.25	71	9	SNP	1.000	C
E2F5	1875	genome.wustl.edu	37	8	86126557	86126557	+	3'UTR	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:86126557T>C	ENST00000416274.2	+	0	1535				E2F5_ENST00000418930.2_3'UTR|E2F5_ENST00000256117.5_3'UTR|C8orf59_ENST00000417663.2_3'UTR|C8orf59_ENST00000431163.2_3'UTR|E2F5_ENST00000521429.1_3'UTR|E2F5_ENST00000519128.1_3'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TAAACGAGGATATATAACTGT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.*460T>C	8.37:g.86126557T>C			E9PBN9|Q16601|Q92756	RNA	SNP	-	NULL	ENST00000416274.2	37	NULL	CCDS47885.1	8																																																																																			E2F5	-	-	ENSG00000133740		0.363	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	-	0.00	46	0	T	NM_001951		86126557	+1	tier1	-	no_errors	ENST00000519128	ensembl	human	known	74_37	rna	39.53	26	17	SNP	0.002	C
EGFR	1956	genome.wustl.edu	37	7	55273092	55273092	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:55273092C>T	ENST00000275493.2	+	28	3592	c.3415C>T	c.(3415-3417)Ctc>Ttc	p.L1139F	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L1086F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1139					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCCCGAGTATCTCAACACTGT	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													108.0	87.0	94.0					7																	55273092		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3415C>T	7.37:g.55273092C>T	ENSP00000275493:p.Leu1139Phe		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1139F	ENST00000275493.2	37	c.3415	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799278	0.70567	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.80653	-1.4;-1.38	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.72624	2.21	0.58432	D	0.999994	D	0.63046	0.992	P	0.62382	0.901	D	0.89321	0.3640	10	0.87932	D	0	.	18.0405	0.89317	0.0:1.0:0.0:0.0	.	1139	P00533	EGFR_HUMAN	F	1009;1139;1086	ENSP00000275493:L1139F;ENSP00000395243:L1086F	ENSP00000275493:L1139F	L	+	1	0	EGFR	55240586	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.524000	0.67105	2.663000	0.90544	0.558000	0.71614	CTC	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000146648		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0.00	25	0	C	NM_005228		55273092	+1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	T
TBC1D3P3	653017	genome.wustl.edu	37	17	20451635	20451635	+	lincRNA	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:20451635G>A	ENST00000591705.1	+	0	2952																											TGAGCTGTGGGCAGAAAACAA	0.502																																																	0																																												0																															17.37:g.20451635G>A				RNA	SNP	-	NULL	ENST00000591705.1	37	NULL		17																																																																																			RP11-434D2.3	-	-	ENSG00000267075		0.502	RP11-434D2.3-001	KNOWN	basic	lincRNA	ENSG00000267075	Clone_based_vega_gene	lincRNA	OTTHUMT00000441761.2	-	0.00	28	0	G			20451635	+1	tier1	-	no_errors	ENST00000591705	ensembl	human	known	74_37	rna	14.29	30	5	SNP	0.997	A
F5	2153	genome.wustl.edu	37	1	169497273	169497273	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:169497273T>C	ENST00000367797.3	-	17	5680	c.5479A>G	c.(5479-5481)Agg>Ggg	p.R1827G	F5_ENST00000367796.3_Missense_Mutation_p.R1832G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1827	F5/8 type A 3.|Plastocyanin-like 6.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGTGTAACCTCACCCACTCT	0.453																																																	0													97.0	94.0	95.0					1																	169497273		2203	4300	6503	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5479A>G	1.37:g.169497273T>C	ENSP00000356771:p.Arg1827Gly		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1827G	ENST00000367797.3	37	c.5479	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752407	0.69533	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99812	-6.88;-6.88	4.96	3.75	0.43078	Cupredoxin (2);	0.411999	0.26931	N	0.021769	D	0.99563	0.9843	M	0.85630	2.765	0.32974	D	0.522727	D	0.58620	0.983	P	0.58130	0.833	D	0.98676	1.0690	9	0.59425	D	0.04	-18.5192	10.2695	0.43475	0.0:0.0:0.3881:0.6119	.	1827	P12259	FA5_HUMAN	G	1827;1832	ENSP00000356771:R1827G;ENSP00000356770:R1832G	ENSP00000356770:R1832G	R	-	1	2	F5	167763897	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	1.141000	0.31528	1.865000	0.54081	0.533000	0.62120	AGG	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1		0.00	40	0	T	NM_000130		169497273	-1			no_errors	ENST00000367797	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	C
FAM186A	121006	genome.wustl.edu	37	12	50745671	50745671	+	Silent	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:50745671T>C	ENST00000327337.5	-	4	4943	c.4944A>G	c.(4942-4944)ggA>ggG	p.G1648G	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Silent_p.G1648G	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1648																	TGATGGGGACTCCCAGTGCCT	0.602																																					NSCLC(138;1796 1887 12511 19463 37884)												0													33.0	32.0	33.0					12																	50745671		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4944A>G	12.37:g.50745671T>C				Silent	SNP	NULL	p.G1648	ENST00000327337.5	37	c.4944	CCDS44878.1	12																																																																																			FAM186A	-	NULL	ENSG00000185958		0.602	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1		0.00	107	0	T	XM_001718353		50745671	-1			no_errors	ENST00000327337	ensembl	human	known	74_37	silent	6.32	89	6	SNP	0.000	C
FAM208A	23272	genome.wustl.edu	37	3	56703801	56703801	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:56703801T>A	ENST00000493960.2	-	5	672	c.662A>T	c.(661-663)tAt>tTt	p.Y221F	FAM208A_ENST00000355628.5_Missense_Mutation_p.Y221F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	221							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TAAATCAGCATACCTAGAAAG	0.303																																																	0													67.0	61.0	63.0					3																	56703801		692	1591	2283	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.662A>T	3.37:g.56703801T>A	ENSP00000417509:p.Tyr221Phe		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.Y221F	ENST00000493960.2	37	c.662	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140230	0.77775	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	T;T	0.48522	0.81;0.81	5.51	5.51	0.81932	.	.	.	.	.	T	0.62950	0.2470	L	0.46157	1.445	0.49687	D	0.999817	D;D	0.89917	0.98;1.0	P;D	0.83275	0.689;0.996	T	0.65944	-0.6045	9	0.87932	D	0	-5.7639	15.32	0.74115	0.0:0.0:0.0:1.0	.	221;221	Q9UK61-3;Q9UK61-4	.;.	F	221	ENSP00000417509:Y221F;ENSP00000347845:Y221F	ENSP00000347845:Y221F	Y	-	2	0	C3orf63	56678841	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.917000	0.63369	2.088000	0.63022	0.533000	0.62120	TAT	FAM208A	-	pfam_DUF3715	ENSG00000163946		0.303	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0.00	54	0	T	NM_015224		56703801	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	A
FBXL4	26235	genome.wustl.edu	37	6	99374651	99374651	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:99374651A>G	ENST00000369244.2	-	4	642	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P	FBXL4_ENST00000229971.1_Missense_Mutation_p.S72P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	72					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATAGTATAGGACATACTATTC	0.433																																																	0													182.0	160.0	167.0					6																	99374651		2203	4300	6503	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.214T>C	6.37:g.99374651A>G	ENSP00000358247:p.Ser72Pro		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S72P	ENST00000369244.2	37	c.214	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375699	0.82682	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.25749	1.78;1.78	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.48490	-0.9031	10	0.87932	D	0	.	15.9507	0.79835	1.0:0.0:0.0:0.0	.	72	Q9UKA2	FBXL4_HUMAN	P	72	ENSP00000358247:S72P;ENSP00000229971:S72P	ENSP00000229971:S72P	S	-	1	0	FBXL4	99481372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.232000	0.73038	0.528000	0.53228	TCC	FBXL4	-	NULL	ENSG00000112234		0.433	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	-	0.00	49	0	A			99374651	-1	tier1	-	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	G
FLT1	2321	genome.wustl.edu	37	13	28942717	28942719	+	Intron	DEL	ATG	ATG	-	rs112404448	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr13:28942717_28942719delATG	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Stop_Codon_Del	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	gatgatagctatgatgatgatga	0.345														172	0.034345	0.115	0.0173	5008	,	,		24873	0.001		0.004	False		,,,				2504	0.0031																0									,	308,2524		48,212,1156					,	0.2	0.1		dbSNP_132	311	29,4797		5,19,2389	no	intron,coding	FLT1	NM_002019.4,NM_001160030.1	,	53,231,3545	A1A1,A1R,RR		0.6009,10.8757,4.4006	,	,		337,7321				SO:0001627	intron_variant	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10895CAT>-	13.37:g.28942726_28942728delATG			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.S733in_frame_del	ENST00000282397.4	37	c.2200_2198	CCDS9330.1	13																																																																																			FLT1	-	pfscan_Ig-like_dom	ENSG00000102755		0.345	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1		0.00	33	0	ATG			28942719	-1	tier1		no_errors	ENST00000541932	ensembl	human	known	74_37	in_frame_del	18.75	13	3	DEL	0.078:0.077:0.076	-
FMN2	56776	genome.wustl.edu	37	1	240255581	240255581	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:240255581G>T	ENST00000319653.9	+	1	402	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	58					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			cggcggcggcggcggggAGTC	0.662																																																	0													4.0	6.0	5.0					1																	240255581		1987	3934	5921	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.172G>T	1.37:g.240255581G>T	ENSP00000318884:p.Gly58Cys		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G58C	ENST00000319653.9	37	c.172	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	3.339	-0.134963	0.06711	.	.	ENSG00000155816	ENST00000319653	T	0.27256	1.68	.	.	.	.	0.540373	0.16517	N	0.210966	T	0.25717	0.0626	L	0.40543	1.245	0.80722	D	1	.	.	.	.	.	.	T	0.04153	-1.0973	6	0.35671	T	0.21	.	.	.	.	.	58	Q9NZ56	FMN2_HUMAN	C	58	ENSP00000318884:G58C	ENSP00000318884:G58C	G	+	1	0	FMN2	238322204	0.836000	0.29430	0.983000	0.44433	0.933000	0.57130	-0.426000	0.07008	0.088000	0.17205	0.089000	0.15464	GGC	FMN2	-	NULL	ENSG00000155816		0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	22	0	G	XM_371352		240255581	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.962	T
FNIP1	96459	genome.wustl.edu	37	5	131008447	131008447	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:131008447T>C	ENST00000510461.1	-	14	1785	c.1690A>G	c.(1690-1692)Atg>Gtg	p.M564V	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.M519V|FNIP1_ENST00000307968.7_Missense_Mutation_p.M536V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	564					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTGCCTGGCATAACGATGGCT	0.363																																																	0													148.0	136.0	140.0					5																	131008447		2203	4300	6503	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1690A>G	5.37:g.131008447T>C	ENSP00000421985:p.Met564Val		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.M564V	ENST00000510461.1	37	c.1690	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255029	0.59321	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.11712	2.75;2.75;2.75	5.83	5.83	0.93111	.	.	.	.	.	T	0.23806	0.0576	L	0.36672	1.1	0.80722	D	1	D;D;B	0.58268	0.982;0.982;0.041	D;D;B	0.68943	0.961;0.961;0.054	T	0.00597	-1.1652	9	0.41790	T	0.15	-7.6332	16.2041	0.82108	0.0:0.0:0.0:1.0	.	564;536;564	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	V	536;519;324;564	ENSP00000309266:M536V;ENSP00000310453:M519V;ENSP00000421985:M564V	ENSP00000310453:M519V	M	-	1	0	FNIP1	131036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.219000	0.72066	0.533000	0.62120	ATG	FNIP1	-	NULL	ENSG00000217128		0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	-	0.00	103	0	T	NM_133372		131008447	-1	tier1	-	no_errors	ENST00000510461	ensembl	human	known	74_37	missense	26.92	76	28	SNP	1.000	C
HDAC4	9759	genome.wustl.edu	37	2	240036937	240036937	+	Missense_Mutation	SNP	G	G	A	rs202206567		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:240036937G>A	ENST00000345617.3	-	13	2379	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	HDAC4_ENST00000541256.1_Missense_Mutation_p.R504C|HDAC4_ENST00000543185.1_Missense_Mutation_p.R114C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	530					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGTGCTCACGGAGCTCCTCC	0.677																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	50.0	48.0		1588	5.1	0.6	2		48	0,8600		0,0,4300	no	missense	HDAC4	NM_006037.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	530/1085	240036937	1,13005	2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1588C>T	2.37:g.240036937G>A	ENSP00000264606:p.Arg530Cys		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R530C	ENST00000345617.3	37	c.1588	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316157	0.81469	2.27E-4	0.0	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65178	4.26;-0.14;4.26	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.78966	0.4367	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.976;0.99;0.999;0.997;0.991;0.983	T	0.78732	-0.2089	9	.	.	.	.	18.9026	0.92449	0.0:0.0:1.0:0.0	.	530;413;504;504;498;530	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	C	530;418;114;504;413	ENSP00000264606:R530C;ENSP00000440481:R114C;ENSP00000443057:R504C	.	R	-	1	0	HDAC4	239701874	0.994000	0.37717	0.596000	0.28811	0.899000	0.52679	3.595000	0.54016	2.538000	0.85594	0.655000	0.94253	CGT	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.677	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0.00	39	0	G	NM_006037		240036937	-1			no_errors	ENST00000345617	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.966	A
HERC2P3	283755	genome.wustl.edu	37	15	20644266	20644266	+	RNA	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:20644266T>C	ENST00000428453.1	-	0	3297							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCCACTGAGTCAGGGAGTGC	0.627																																																	0													12.0	7.0	9.0					15																	20644266		2122	4031	6153			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644266T>C				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.627	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	-	0.00	220	0	T	NG_008269		20644266	-1	tier1	-	no_errors	ENST00000426501	ensembl	human	known	74_37	rna	8.56	170	16	SNP	0.972	C
HIST4H4	121504	genome.wustl.edu	37	12	14923843	14923844	+	Frame_Shift_Ins	INS	-	-	G	rs548219328		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:14923843_14923844insG	ENST00000539745.1	-	1	221_222	c.175_176insC	c.(175-177)ctcfs	p.L59fs	HIST4H4_ENST00000541592.1_5'Flank|RP11-174G6.5_ENST00000562691.2_RNA	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GAAGACTTTGAGGACTCCCCGG	0.589											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.176dupC	12.37:g.14923845_14923845dupG	ENSP00000443017:p.Leu59fs	698	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L59fs	ENST00000539745.1	37	c.176_175	CCDS8665.1	12																																																																																			HIST4H4	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000197837		0.589	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST4H4	HGNC	protein_coding	OTTHUMT00000400844.1		0.00	63	0	-	NM_175054		14923844	-1	tier1		no_errors	ENST00000358064	ensembl	human	known	74_37	frame_shift_ins	10.00	45	5	INS	1.000:1.000	G
HOXB7	3217	genome.wustl.edu	37	17	46688090	46688090	+	Frame_Shift_Del	DEL	C	C	-	rs201998748		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:46688090delC	ENST00000239165.7	-	1	289	c.191delG	c.(190-192)ggcfs	p.G64fs	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	64					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GCCCGCCATGCCCCCCCCGCC	0.692																																																	0										53,62,3713		2,0,49,5,52,1806	6.0	8.0	7.0			3.2	1.0	17		7	150,118,7256		9,0,132,1,116,3504	no	codingComplex	HOXB7	NM_004502.3		11,0,181,6,168,5310	A1A1,A1A2,A1R,A2A2,A2R,RR		3.5619,3.0042,3.3739			46688090	203,180,10969	2064	4053	6117	SO:0001589	frameshift_variant	0				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.191delG	17.37:g.46688090delC	ENSP00000239165:p.Gly64fs		A8K3N8|Q15957|Q53FN3|Q96BQ6	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.G64fs	ENST00000239165.7	37	c.191	CCDS11532.1	17																																																																																			HOXB7	-	NULL	ENSG00000260027		0.692	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB7	HGNC	protein_coding	OTTHUMT00000358097.3		0.00	26	0	C			46688090	-1	tier1		no_errors	ENST00000239165	ensembl	human	known	74_37	frame_shift_del	21.43	11	3	DEL	1.000	-
HRNR	388697	genome.wustl.edu	37	1	152187118	152187118	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:152187118G>A	ENST00000368801.2	-	3	7062	c.6987C>T	c.(6985-6987)ggC>ggT	p.G2329G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2329					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCATGTCGGCCACTGCTGG	0.602																																																	0													19.0	29.0	26.0					1																	152187118		1437	3146	4583	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6987C>T	1.37:g.152187118G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2329	ENST00000368801.2	37	c.6987	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	50	0	G	XM_373868		152187118	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.000	A
ICAM5	7087	genome.wustl.edu	37	19	10403909	10403909	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:10403909G>A	ENST00000221980.4	+	6	1515	c.1452G>A	c.(1450-1452)acG>acA	p.T484T		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	484	Ig-like C2-type 5.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGGACGTAACGCTAACGGTGG	0.612																																																	0													75.0	57.0	63.0					19																	10403909		2198	4296	6494	SO:0001819	synonymous_variant	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1452G>A	19.37:g.10403909G>A			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.T484	ENST00000221980.4	37	c.1452	CCDS12233.1	19																																																																																			ICAM5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105376		0.612	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0.00	45	0	G	NM_003259		10403909	+1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	13.89	31	5	SNP	0.487	A
IKBKAP	8518	genome.wustl.edu	37	9	111659307	111659307	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr9:111659307G>T	ENST00000374647.5	-	24	2820	c.2513C>A	c.(2512-2514)tCc>tAc	p.S838Y	IKBKAP_ENST00000537196.1_Missense_Mutation_p.S489Y	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	838					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTAAGTATGGATAGGCAGTA	0.423																																																	0													141.0	131.0	134.0					9																	111659307		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2513C>A	9.37:g.111659307G>T	ENSP00000363779:p.Ser838Tyr		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.S838Y	ENST00000374647.5	37	c.2513	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921921	0.33908	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.29142	1.58;1.58	5.65	4.71	0.59529	.	0.193054	0.45867	D	0.000323	T	0.56978	0.2022	M	0.85859	2.78	0.09310	N	0.999994	D	0.59767	0.986	P	0.62089	0.898	T	0.54754	-0.8246	10	0.62326	D	0.03	-4.1094	15.8046	0.78483	0.0:0.1486:0.8514:0.0	.	838	O95163	ELP1_HUMAN	Y	838;489	ENSP00000363779:S838Y;ENSP00000439367:S489Y	ENSP00000363779:S838Y	S	-	2	0	IKBKAP	110699128	1.000000	0.71417	0.168000	0.22838	0.237000	0.25408	5.367000	0.66127	2.660000	0.90430	0.467000	0.42956	TCC	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.423	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1		0.00	93	0	G			111659307	-1			no_errors	ENST00000374647	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.192	T
INF2	64423	genome.wustl.edu	37	14	105173657	105173657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:105173657delC	ENST00000392634.4	+	8	1165	c.1053delC	c.(1051-1053)agcfs	p.S351fs	INF2_ENST00000330634.7_Frame_Shift_Del_p.S351fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	351					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCAGACCGAGCCCCCTGGTCA	0.627																																																	0													20.0	26.0	24.0					14																	105173657		1970	4140	6110	SO:0001589	frameshift_variant	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1053delC	14.37:g.105173657delC	ENSP00000376410:p.Ser351fs		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Del	DEL	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.L353fs	ENST00000392634.4	37	c.1053	CCDS9989.2	14																																																																																			INF2	-	NULL	ENSG00000203485		0.627	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0.00	50	0	C	NM_022489		105173657	+1	tier1		no_errors	ENST00000392634	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.004	-
IPO11	51194	genome.wustl.edu	37	5	61826585	61826585	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:61826585A>G	ENST00000325324.6	+	22	2231	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	IPO11_ENST00000409296.3_Missense_Mutation_p.I728V|KIF2A_ENST00000509663.2_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	688					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTTGCTTCGTATATTTCAGAA	0.348																																																	0													124.0	116.0	119.0					5																	61826585		2203	4299	6502	SO:0001583	missense	0			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2062A>G	5.37:g.61826585A>G	ENSP00000316651:p.Ile688Val		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I728V	ENST00000325324.6	37	c.2182	CCDS34167.1	5	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602094	0.46423	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.69306	-0.39;-0.39	5.02	1.1	0.20463	Armadillo-like helical (1);Armadillo-type fold (1);	0.135808	0.64402	N	0.000004	T	0.50292	0.1607	L	0.38175	1.15	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35895	-0.9770	10	0.59425	D	0.04	.	5.7168	0.17964	0.7449:0.0:0.1283:0.1268	.	728;688	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	V	688;728;258	ENSP00000316651:I688V;ENSP00000386992:I728V	ENSP00000316651:I688V	I	+	1	0	IPO11	61862342	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.481000	0.60250	0.017000	0.15025	0.528000	0.53228	ATA	IPO11	-	superfamily_ARM-type_fold	ENSG00000086200		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	-	0.00	80	0	A	NM_016338		61826585	+1	tier1	-	no_errors	ENST00000409296	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	G
IREB2	3658	genome.wustl.edu	37	15	78730685	78730685	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:78730685C>T	ENST00000258886.8	+	1	155	c.6C>T	c.(4-6)gaC>gaT	p.D2D	IREB2_ENST00000560440.1_Silent_p.D2D	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	2					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CGGCGATGGACGCCCCAAAAG	0.657																																					NSCLC(200;764 2208 35157 49871 50830)												0													26.0	26.0	26.0					15																	78730685		2195	4290	6485	SO:0001819	synonymous_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.6C>T	15.37:g.78730685C>T			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.D2	ENST00000258886.8	37	c.6	CCDS10302.1	15																																																																																			IREB2	-	NULL	ENSG00000136381		0.657	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3		0.00	82	0	C	NM_004136		78730685	+1			no_errors	ENST00000258886	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T
ITGB1BP1	9270	genome.wustl.edu	37	2	9548313	9548313	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:9548313C>A	ENST00000360635.3	-	6	1206	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.V104F			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	104	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCCGGAGGAACAAAAGGCAAC	0.284																																																	0													39.0	45.0	43.0					2																	9548313		2200	4296	6496	SO:0001583	missense	0			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.310G>T	2.37:g.9548313C>A	ENSP00000353850:p.Val104Phe		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom	p.V104F	ENST00000360635.3	37	c.310	CCDS1662.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.121138	0.94385	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563	.	.	.	5.87	5.87	0.94306	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.996;0.998	T	0.69351	-0.5168	9	0.72032	D	0.01	-25.0723	20.5827	0.99408	0.0:1.0:0.0:0.0	.	60;104;104;104	B4DQY5;A8MPU2;O14713-2;O14713	.;.;.;ITBP1_HUMAN	F	104	.	ENSP00000238091:V104F	V	-	1	0	ITGB1BP1	9465764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.014000	0.70784	2.941000	0.99782	0.655000	0.94253	GTT	ITGB1BP1	-	pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom	ENSG00000119185		0.284	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2	-	0.00	50	0	C	NM_004763, NM_022334		9548313	-1	tier1	-	no_errors	ENST00000355346	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
ITGB6	3694	genome.wustl.edu	37	2	161030646	161030646	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:161030646T>C	ENST00000283249.2	-	5	835	c.598A>G	c.(598-600)Att>Gtt	p.I200V	ITGB6_ENST00000409872.1_Missense_Mutation_p.I200V|ITGB6_ENST00000409967.2_Missense_Mutation_p.I200V|ITGB6_ENST00000428609.2_Missense_Mutation_p.I158V|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	200	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AAGTATGGAATACTACTGCAA	0.318																																																	0													49.0	43.0	45.0					2																	161030646		2203	4300	6503	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.598A>G	2.37:g.161030646T>C	ENSP00000283249:p.Ile200Val		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.I200V	ENST00000283249.2	37	c.598	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	T	5.957	0.360543	0.11296	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	5.3	2.64	0.31445	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.237175	0.41712	D	0.000830	D	0.88669	0.6499	N	0.03983	-0.305	0.31695	N	0.64146	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	D	0.83654	0.0157	10	0.20046	T	0.44	.	7.742	0.28848	0.0:0.2625:0.0:0.7375	.	158;200	E9PEE8;P18564	.;ITB6_HUMAN	V	200;158;200;200	ENSP00000283249:I200V;ENSP00000408024:I158V;ENSP00000386828:I200V;ENSP00000386367:I200V	ENSP00000283249:I200V	I	-	1	0	ITGB6	160738892	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	1.017000	0.29989	0.966000	0.38159	0.402000	0.26972	ATT	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000115221		0.318	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	-	0.00	27	0	T	NM_000888		161030646	-1	tier1	-	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	C
IVNS1ABP	10625	genome.wustl.edu	37	1	185267261	185267261	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:185267261C>A	ENST00000367498.3	-	15	2457	c.1835G>T	c.(1834-1836)gGa>gTa	p.G612V	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.G394V	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	612					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.G612V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATCGAATCCTCCCACTGCATA	0.393																																																	1	Substitution - Missense(1)	lung(1)											279.0	253.0	261.0					1																	185267261		2203	4300	6503	SO:0001583	missense	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1835G>T	1.37:g.185267261C>A	ENSP00000356468:p.Gly612Val		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G612V	ENST00000367498.3	37	c.1835	CCDS1368.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482734	0.84747	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.98792	-5.14;-5.14	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97810	1.0250	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	394;612	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	V	612;394	ENSP00000356468:G612V;ENSP00000375864:G394V	ENSP00000356468:G612V	G	-	2	0	IVNS1ABP	183533884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.677000	0.91161	0.563000	0.77884	GGA	IVNS1ABP	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000116679		0.393	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1		0.00	44	0	C	NM_006469		185267261	-1			no_errors	ENST00000367498	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A
KCNB2	9312	genome.wustl.edu	37	8	73849588	73849588	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:73849588G>A	ENST00000523207.1	+	3	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGGATGGCACGCTGGAGTATG	0.567																																																	0													54.0	54.0	54.0					8																	73849588		2203	4300	6503	SO:0001819	synonymous_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1998G>A	8.37:g.73849588G>A			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.T666	ENST00000523207.1	37	c.1998	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	-	0.00	24	0	G	NM_004770		73849588	+1	tier1	-	no_errors	ENST00000523207	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.000	A
KCNH1	3756	genome.wustl.edu	37	1	211093142	211093142	+	Silent	SNP	C	C	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:211093142C>G	ENST00000271751.4	-	7	1329	c.1302G>C	c.(1300-1302)ggG>ggC	p.G434G	KCNH1_ENST00000367007.4_Silent_p.G407G			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	434					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGAGCCAGACCCATTAAACT	0.512																																																	0													184.0	168.0	173.0					1																	211093142		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1302G>C	1.37:g.211093142C>G			B1AQ26|O76035|Q14CL3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G434	ENST00000271751.4	37	c.1302	CCDS1496.1	1																																																																																			KCNH1	-	pfam_Ion_trans_dom	ENSG00000143473		0.512	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0.00	98	0	C	NM_002238		211093142	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	silent	13.33	65	10	SNP	0.990	G
KCNS2	3788	genome.wustl.edu	37	8	99441485	99441485	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:99441485C>T	ENST00000287042.4	+	2	1628	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	KCNS2_ENST00000521839.1_Silent_p.A426A	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	426					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TTGAGAGTGCCATGCGCAGCT	0.493																																					Pancreas(138;844 2489 9202 24627)												0													115.0	116.0	116.0					8																	99441485		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1278C>T	8.37:g.99441485C>T			A8KAN1	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.A426	ENST00000287042.4	37	c.1278	CCDS6279.1	8																																																																																			KCNS2	-	NULL	ENSG00000156486		0.493	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1		0.00	12	0	C	NM_020697		99441485	+1			no_errors	ENST00000287042	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.993	T
KIAA0125	9834	genome.wustl.edu	37	14	106391060	106391060	+	IGR	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:106391060G>A	ENST00000449410.1	+	0	533				KIAA0125_ENST00000482999.1_3'UTR			Q9NZY2	K0125_HUMAN	KIAA0125																		CTCCAGCCCCGGGTGTGGACA	0.562																																																	0																																										SO:0001628	intergenic_variant	0			AB019441		14q32.33	2014-04-01			ENSG00000226777	ENSG00000226777			19955	other	unknown			"""family with sequence similarity 30, member A"", ""chromosome 14 open reading frame 110"""	FAM30A, C14orf110		8590280	Standard	NR_026800		Approved	HSPC053	uc001ysq.3	Q9NZY2	OTTHUMG00000152318		14.37:g.106391060G>A			C9J8W9	RNA	SNP	-	NULL	ENST00000449410.1	37	NULL		14																																																																																			KIAA0125	-	-	ENSG00000226777		0.562	KIAA0125-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	KIAA0125	HGNC	protein_coding	OTTHUMT00000325876.1	-	0.00	113	0	G	NM_014792		106391060	+1	tier1	-	no_errors	ENST00000482999	ensembl	human	known	74_37	rna	34.41	61	32	SNP	0.003	A
KIAA1210	57481	genome.wustl.edu	37	X	118257580	118257580	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chrX:118257580G>A	ENST00000402510.2	-	3	445	c.446C>T	c.(445-447)tCt>tTt	p.S149F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	149								p.S149F(1)|p.S9F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGACTGTCAGAAATTTCACT	0.348																																																	2	Substitution - Missense(2)	breast(2)											64.0	54.0	57.0					X																	118257580		1849	4076	5925	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.446C>T	X.37:g.118257580G>A	ENSP00000384670:p.Ser149Phe		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.S149F	ENST00000402510.2	37	c.446	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	6.039	0.375558	0.11409	.	.	ENSG00000250423	ENST00000402510	T	0.11169	2.8	4.06	2.28	0.28536	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	D	0.56746	0.977	P	0.53809	0.735	T	0.30909	-0.9962	9	0.72032	D	0.01	.	11.8418	0.52359	0.0:0.3275:0.6725:0.0	.	149	Q9ULL0	K1210_HUMAN	F	149	ENSP00000384670:S149F	ENSP00000384670:S149F	S	-	2	0	RP13-347D8.6	118141608	0.127000	0.22367	0.000000	0.03702	0.005000	0.04900	2.401000	0.44513	0.146000	0.19002	-0.921000	0.02739	TCT	KIAA1210	-	NULL	ENSG00000250423		0.348	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0.00	22	0	G	NM_020721		118257580	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.000	A
KLC2	64837	genome.wustl.edu	37	11	66033477	66033477	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:66033477G>C	ENST00000417856.1	+	13	1839	c.1596G>C	c.(1594-1596)tgG>tgC	p.W532C	KLC2_ENST00000394066.2_Missense_Mutation_p.W455C|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.W393C|KLC2_ENST00000316924.5_Missense_Mutation_p.W532C|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394067.2_Missense_Mutation_p.W532C|KLC2_ENST00000421552.1_Missense_Mutation_p.W455C	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	532					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGCTGAGTGGAATGGGGTGA	0.706																																																	0													42.0	49.0	46.0					11																	66033477		2200	4290	6490	SO:0001583	missense	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1596G>C	11.37:g.66033477G>C	ENSP00000399403:p.Trp532Cys		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W532C	ENST00000417856.1	37	c.1596	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660901	0.47572	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.84660	-1.19;-1.19;-1.19;-1.2;-1.2;-1.88	3.41	3.41	0.39046	.	0.000000	0.64402	D	0.000003	D	0.90317	0.6971	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.994;0.99;0.987	D	0.90336	0.4355	10	0.46703	T	0.11	-12.6709	13.7549	0.62930	0.0:0.0:1.0:0.0	.	393;455;532	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	C	532;532;532;455;455;393	ENSP00000399403:W532C;ENSP00000377631:W532C;ENSP00000314837:W532C;ENSP00000408484:W455C;ENSP00000377630:W455C;ENSP00000377629:W393C	ENSP00000314837:W532C	W	+	3	0	KLC2	65790053	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	5.055000	0.64282	1.745000	0.51790	0.491000	0.48974	TGG	KLC2	-	NULL	ENSG00000174996		0.706	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1		0.00	30	0	G	NM_022822		66033477	+1			no_errors	ENST00000316924	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C
KRT6A	3853	genome.wustl.edu	37	12	52882150	52882150	+	Silent	SNP	G	G	T	rs370853930		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:52882150G>T	ENST00000330722.6	-	7	1454	c.1386C>A	c.(1384-1386)atC>atA	p.I462I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	462	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597																																																	0													119.0	107.0	111.0					12																	52882150		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1386C>A	12.37:g.52882150G>T			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.I462	ENST00000330722.6	37	c.1386	CCDS41786.1	12																																																																																			KRT6A	-	pfam_IF,superfamily_Prefoldin	ENSG00000205420		0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0.00	84	0	G	NM_005554		52882150	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	silent	15.12	73	13	SNP	0.647	T
LAMA3	3909	genome.wustl.edu	37	18	21329508	21329508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:21329508G>T	ENST00000313654.9	+	4	923	c.682G>T	c.(682-684)Gag>Tag	p.E228*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E228*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	228	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGAAAATGGTGAGGTAAGTAG	0.398																																																	0													81.0	83.0	83.0					18																	21329508		1859	4095	5954	SO:0001587	stop_gained	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.682G>T	18.37:g.21329508G>T	ENSP00000324532:p.Glu228*		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E228*	ENST00000313654.9	37	c.682	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	39	7.387934	0.98252	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000324532:E228X	E	+	1	0	LAMA3	19583506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.891000	0.92485	2.776000	0.95493	0.655000	0.94253	GAG	LAMA3	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000053747		0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0.00	118	0	G	NM_000227, NM_198129		21329508	+1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
LCT	3938	genome.wustl.edu	37	2	136566569	136566569	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:136566569C>T	ENST00000264162.2	-	8	3358	c.3348G>A	c.(3346-3348)caG>caA	p.Q1116Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1116	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGACCCCCTTCTGCTCCTGCC	0.572																																																	0													73.0	77.0	76.0					2																	136566569		2203	4300	6503	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3348G>A	2.37:g.136566569C>T			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Q1116	ENST00000264162.2	37	c.3348	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0.00	53	0	C	NM_002299		136566569	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.999	T
LGI2	55203	genome.wustl.edu	37	4	25019636	25019636	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:25019636G>T	ENST00000382114.4	-	6	815	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	210	LRRCT.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CATAGTCAAAGCTGGTCACGT	0.408																																																	0													253.0	226.0	235.0					4																	25019636		2203	4300	6503	SO:0001583	missense	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.630C>A	4.37:g.25019636G>T	ENSP00000371548:p.Ser210Arg		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.S210R	ENST00000382114.4	37	c.630	CCDS3431.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.010888|3.010888	0.54361|0.54361	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|T	.|0.62498	.|0.02	5.65|5.65	2.53|2.53	0.30540|0.30540	.|Cysteine-rich flanking region, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52996|0.52996	0.1769|0.1769	L|L	0.53729|0.53729	1.69|1.69	0.54753|0.54753	D|D	0.999987|0.999987	.|P	.|0.42827	.|0.791	.|P	.|0.44422	.|0.449	T|T	0.44892|0.44892	-0.9298|-0.9298	5|10	.|0.16420	.|T	.|0.52	-32.5974|-32.5974	5.3418|5.3418	0.15988|0.15988	0.5228:0.0:0.4772:0.0|0.5228:0.0:0.4772:0.0	.|.	.|210	.|Q8N0V4	.|LGI2_HUMAN	D|R	201|210	.|ENSP00000371548:S210R	.|ENSP00000371548:S210R	A|S	-|-	2|3	0|2	LGI2|LGI2	24628734|24628734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.493000|4.493000	0.60341|0.60341	0.866000|0.866000	0.35629|0.35629	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC	LGI2	-	smart_Cys-rich_flank_reg_C	ENSG00000153012		0.408	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	-	0.00	79	0	G			25019636	-1	tier1	-	no_errors	ENST00000382114	ensembl	human	known	74_37	missense	21.43	44	12	SNP	1.000	T
LMF2	91289	genome.wustl.edu	37	22	50944766	50944766	+	Silent	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr22:50944766G>T	ENST00000474879.2	-	4	558	c.543C>A	c.(541-543)gcC>gcA	p.A181A	LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000380796.3_Silent_p.A181A|NCAPH2_ENST00000420993.2_5'Flank|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Silent_p.A156A|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	181						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGCCTGAGGCGAACATGA	0.711																																																	0													14.0	13.0	13.0					22																	50944766		2002	3969	5971	SO:0001819	synonymous_variant	0			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.543C>A	22.37:g.50944766G>T			A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	pfam_LMF	p.A181	ENST00000474879.2	37	c.543	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	g	11.59	1.684601	0.29872	.	.	ENSG00000100258	ENST00000487499	.	.	.	4.69	3.68	0.42216	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54543	-0.8278	4	.	.	.	-9.1792	8.4574	0.32908	0.1814:0.0:0.8186:0.0	.	.	.	.	I	188	.	.	L	-	1	0	LMF2	49291632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.215000	0.32431	1.114000	0.41781	0.651000	0.88453	CTC	LMF2	-	pfam_LMF	ENSG00000100258		0.711	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	-	0.00	28	0	G	NM_033200		50944766	-1	tier1	-	no_errors	ENST00000474879	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	T
LOXHD1	125336	genome.wustl.edu	37	18	44063558	44063558	+	Silent	SNP	G	G	A	rs374858340		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:44063558G>A	ENST00000398722.4	-	33	5498	c.5499C>T	c.(5497-5499)taC>taT	p.Y1833Y	LOXHD1_ENST00000582408.1_Silent_p.Y938Y|LOXHD1_ENST00000300591.6_Silent_p.Y1000Y|LOXHD1_ENST00000441893.2_Silent_p.Y982Y|LOXHD1_ENST00000441551.2_Silent_p.Y1905Y|LOXHD1_ENST00000579038.1_Silent_p.Y904Y|LOXHD1_ENST00000398686.4_Silent_p.Y350Y|LOXHD1_ENST00000536736.1_Silent_p.Y2049Y|LOXHD1_ENST00000398705.2_Silent_p.Y350Y			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1833	PLAT 13. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						ACACATTGCCGTACTCCATCT	0.572																																																	0								G	,,,	0,1384		0,0,692	99.0	78.0	85.0		3000,1050,1050,6147	-7.5	0.1	18		85	1,3181		0,1,1590	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LOXHD1	NM_001145472.2,NM_001145473.2,NM_001173129.1,NM_144612.6	,,,	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	,,,	1000/1115,350/513,350/458,2049/2212	44063558	1,4565	692	1591	2283	SO:0001819	synonymous_variant	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.5499C>T	18.37:g.44063558G>A			B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	p.Y2049	ENST00000398722.4	37	c.6147		18																																																																																			LOXHD1	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom	ENSG00000167210		0.572	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		-	0.00	112	0	G	NM_144612		44063558	-1	tier1	-	no_errors	ENST00000536736	ensembl	human	known	74_37	silent	20.65	73	19	SNP	0.057	A
LRRC34	151827	genome.wustl.edu	37	3	169514046	169514046	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:169514046G>T	ENST00000316515.7	-	8	1161	c.885C>A	c.(883-885)aaC>aaA	p.N295K	RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.N279K|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000446859.1_Missense_Mutation_p.N340K|LRRC34_ENST00000522526.2_Missense_Mutation_p.N308K|LRRC34_ENST00000524327.1_5'UTR	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	295										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CACTGAGATAGTTTGCGCCTG	0.333																																																	0													120.0	117.0	118.0					3																	169514046		2202	4300	6502	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.885C>A	3.37:g.169514046G>T	ENSP00000326150:p.Asn295Lys		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.N340K	ENST00000316515.7	37	c.1020		3	.	.	.	.	.	.	.	.	.	.	G	0.849	-0.739254	0.03088	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.47	-6.95	0.01628	.	0.692724	0.15596	N	0.254174	T	0.12263	0.0298	N	0.00493	-1.44	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.002;0.002	T	0.39440	-0.9614	10	0.21014	T	0.42	0.0532	11.6904	0.51512	0.263:0.5063:0.2307:0.0	.	327;279;279;340;295	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	K	340;295;279;308	ENSP00000414635:N340K;ENSP00000326150:N295K;ENSP00000429593:N279K;ENSP00000429278:N308K	ENSP00000326150:N295K	N	-	3	2	LRRC34	170996740	0.001000	0.12720	0.604000	0.28916	0.798000	0.45092	-0.850000	0.04317	-0.973000	0.03555	0.585000	0.79938	AAC	LRRC34	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171757		0.333	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding			0.00	52	0	G	NM_153353		169514046	-1			no_errors	ENST00000446859	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.007	T
LRRC6	23639	genome.wustl.edu	37	8	133595957	133595957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:133595957C>A	ENST00000519595.1	-	11	1308	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	LRRC6_ENST00000518642.1_Nonsense_Mutation_p.E401*|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.E404*			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	404					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGTTTGTTCTCTGCTCCTG	0.403																																																	0													235.0	199.0	212.0					8																	133595957		2203	4300	6503	SO:0001587	stop_gained	0			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1210G>T	8.37:g.133595957C>A	ENSP00000429791:p.Glu404*		Q13648|Q4G183	Nonsense_Mutation	SNP	superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom	p.E404*	ENST00000519595.1	37	c.1210		8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936179	0.73442	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	.	.	.	4.57	3.62	0.41486	.	0.505413	0.21241	N	0.077816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-20.3335	9.3533	0.38151	0.2132:0.7868:0.0:0.0	.	.	.	.	X	404;144;401;404;404	.	ENSP00000250173:E404X	E	-	1	0	LRRC6	133665139	0.001000	0.12720	0.077000	0.20336	0.030000	0.12068	0.612000	0.24283	2.548000	0.85928	0.585000	0.79938	GAA	LRRC6	-	NULL	ENSG00000129295		0.403	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0.00	55	0	C	NM_012472		133595957	-1	tier1	-	no_errors	ENST00000250173	ensembl	human	known	74_37	nonsense	12.86	61	9	SNP	0.040	A
LSM14A	26065	genome.wustl.edu	37	19	34710734	34710735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:34710734_34710735insT	ENST00000433627.5	+	8	1163_1164	c.1088_1089insT	c.(1087-1092)tatgacfs	p.D364fs	LSM14A_ENST00000544216.3_Frame_Shift_Ins_p.D364fs|LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.D323fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	364					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATTGCTATTATGACAAAACTA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1089dupT	19.37:g.34710735_34710735dupT	ENSP00000413964:p.Asp364fs		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Ins	INS	pfam_FDF_dom,superfamily_LSM_dom	p.D364fs	ENST00000433627.5	37	c.1088_1089	CCDS46040.1	19																																																																																			LSM14A	-	NULL	ENSG00000257103		0.332	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3		0.00	60	0	-	NM_015578		34710735	+1	tier1		no_errors	ENST00000433627	ensembl	human	known	74_37	frame_shift_ins	12.77	41	6	INS	1.000:1.000	T
MACF1	23499	genome.wustl.edu	37	1	39951742	39951743	+	3'UTR	INS	-	-	A	rs3839022|rs551344914	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:39951742_39951743insA	ENST00000372915.3	+	0	22530_22531				MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000564288.1_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000289893.4_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAATGTGTATTAAAAAAAAAAA	0.342																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*277->A	1.37:g.39951753_39951753dupA			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	INS	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.342	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	45	0	-	NM_033044		39951743	+1	tier1		no_errors	ENST00000496360	ensembl	human	known	74_37	rna	11.25	71	9	INS	0.986:0.084	A
MDGA1	266727	genome.wustl.edu	37	6	37614970	37614970	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:37614970G>T	ENST00000434837.3	-	10	3203	c.2025C>A	c.(2023-2025)aaC>aaA	p.N675K	MDGA1_ENST00000297153.7_Missense_Mutation_p.N678K|MDGA1_ENST00000505425.1_Missense_Mutation_p.N675K|MDGA1_ENST00000510077.1_5'UTR	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	675	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAGTCTGTAGTTGAGCACAG	0.637																																																	0													25.0	27.0	26.0					6																	37614970		1972	4149	6121	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2025C>A	6.37:g.37614970G>T	ENSP00000402584:p.Asn675Lys		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.N678K	ENST00000434837.3	37	c.2034	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451195	0.43531	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.54279	0.58;0.58;0.58	5.08	5.08	0.68730	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.119358	0.36740	N	0.002427	T	0.09992	0.0245	N	0.02011	-0.69	0.40359	D	0.979223	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.05721	T	0.95	.	13.9531	0.64131	0.0:0.1642:0.8358:0.0	.	675	Q8NFP4	MDGA1_HUMAN	K	675;678;675	ENSP00000402584:N675K;ENSP00000297153:N678K;ENSP00000422042:N675K	ENSP00000297153:N678K	N	-	3	2	MDGA1	37722948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.643000	0.54374	2.362000	0.80069	0.655000	0.94253	AAC	MDGA1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000112139		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0.00	42	0	G			37614970	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90504332	90504333	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:90504332_90504333delAC	ENST00000369393.3	-	3	632_633	c.517_518delGT	c.(517-519)gtcfs	p.V173fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.V173fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	173					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)			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)		GAGGAGAGGGACACACACACTC	0.54																																																	0																																										SO:0001589	frameshift_variant	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.517_518delGT	6.37:g.90504340_90504341delAC	ENSP00000358400:p.Val173fs		O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V173fs	ENST00000369393.3	37	c.518_517	CCDS5024.1	6																																																																																			MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.540	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0.00	31	0	AC			90504333	-1	tier1		no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.998:1.000	-
METTL4	64863	genome.wustl.edu	37	18	2554941	2554941	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:2554941T>C	ENST00000574538.1	-	4	1331	c.556A>G	c.(556-558)Agt>Ggt	p.S186G	METTL4_ENST00000319888.6_Missense_Mutation_p.S186G|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	186					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATGGGCTTACTACCCTTGTCC	0.398																																																	0													123.0	123.0	123.0					18																	2554941		2203	4300	6503	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.556A>G	18.37:g.2554941T>C	ENSP00000458290:p.Ser186Gly		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.S186G	ENST00000574538.1	37	c.556	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	T	3.494	-0.103290	0.06967	.	.	ENSG00000101574	ENST00000319888	T	0.23754	1.89	5.85	0.914	0.19360	.	0.927155	0.09273	N	0.824902	T	0.22742	0.0549	L	0.46741	1.465	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28267	-1.0049	10	0.30854	T	0.27	0.0038	10.3826	0.44121	0.0:0.3897:0.0:0.6103	.	186	Q8N3J2	METL4_HUMAN	G	186	ENSP00000320349:S186G	ENSP00000320349:S186G	S	-	1	0	METTL4	2544941	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	0.198000	0.17217	0.135000	0.18707	0.533000	0.62120	AGT	METTL4	-	NULL	ENSG00000101574		0.398	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	-	0.00	40	0	T	NM_022840		2554941	-1	tier1	-	no_errors	ENST00000574538	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.000	C
MPPE1	65258	genome.wustl.edu	37	18	11888683	11888683	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:11888683G>C	ENST00000588072.1	-	6	1775	c.554C>G	c.(553-555)tCt>tGt	p.S185C	MPPE1_ENST00000399978.2_Missense_Mutation_p.S185C|MPPE1_ENST00000309976.9_Missense_Mutation_p.S185C|MPPE1_ENST00000317235.7_Missense_Mutation_p.S185C|MPPE1_ENST00000344987.7_Missense_Mutation_p.S185C	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	185					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCCTTTCCAAGAAAACAGTCT	0.363																																																	0													59.0	62.0	61.0					18																	11888683		2203	4298	6501	SO:0001583	missense	0			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.554C>G	18.37:g.11888683G>C	ENSP00000465894:p.Ser185Cys		B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	pfam_PEstase_dom	p.S185C	ENST00000588072.1	37	c.554	CCDS11853.1	18	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713410	0.68730	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	4.83	4.83	0.62350	Calcineurin-like phosphoesterase superfamily domain (1);	0.152963	0.64402	D	0.000015	T	0.43411	0.1246	M	0.73962	2.25	0.44092	D	0.99685	D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.999;0.998;0.999	D;D;D;D;D;D	0.73380	0.936;0.98;0.935;0.947;0.936;0.957	T	0.39035	-0.9633	10	0.54805	T	0.06	-11.0482	17.8704	0.88808	0.0:0.0:1.0:0.0	.	185;185;88;185;185;185	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	C	185;185;88;185;185	ENSP00000327257:S185C;ENSP00000311200:S185C;ENSP00000312935:S88C;ENSP00000339423:S185C;ENSP00000382860:S185C	ENSP00000311200:S185C	S	-	2	0	MPPE1	11878683	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.916000	0.75776	2.400000	0.81607	0.462000	0.41574	TCT	MPPE1	-	NULL	ENSG00000154889		0.363	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	-	0.00	36	0	G	NM_023075		11888683	-1	tier1	-	no_errors	ENST00000588072	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	C
MTUS1	57509	genome.wustl.edu	37	8	17532707	17532707	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:17532707G>A	ENST00000262102.6	-	8	3117	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	MTUS1_ENST00000519263.1_Missense_Mutation_p.R911W|MTUS1_ENST00000297488.6_Missense_Mutation_p.R131W|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.R212W|MTUS1_ENST00000381869.3_Missense_Mutation_p.R911W|MTUS1_ENST00000400046.1_Missense_Mutation_p.R37W|MTUS1_ENST00000544260.1_Missense_Mutation_p.R110W	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	965					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGCTCTCCCCGGAGGTTAACA	0.463																																																	0													174.0	162.0	166.0					8																	17532707		1929	4128	6057	SO:0001583	missense	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2893C>T	8.37:g.17532707G>A	ENSP00000262102:p.Arg965Trp		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.R965W	ENST00000262102.6	37	c.2893	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397834	0.83120	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.91;1.28;1.28;1.28;1.28	4.61	4.61	0.57282	.	0.119890	0.64402	D	0.000020	T	0.61887	0.2383	M	0.83603	2.65	0.80722	D	1	D;P;D;D	0.89917	1.0;0.949;0.992;0.996	P;P;P;P	0.62184	0.899;0.685;0.685;0.685	T	0.69339	-0.5171	10	0.87932	D	0	-17.5251	18.0913	0.89476	0.0:0.0:1.0:0.0	.	911;965;212;131	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	W	911;110;37;131;212;965;911	ENSP00000371293:R911W;ENSP00000445738:R110W;ENSP00000382921:R37W;ENSP00000297488:R131W;ENSP00000371285:R212W;ENSP00000262102:R965W;ENSP00000430167:R911W	ENSP00000262102:R965W	R	-	1	2	MTUS1	17576987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.095000	0.50235	2.576000	0.86940	0.460000	0.39030	CGG	MTUS1	-	NULL	ENSG00000129422		0.463	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	-	0.00	60	0	G	XM_372031		17532707	-1	tier1	-	no_errors	ENST00000262102	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	A
MYCN	4613	genome.wustl.edu	37	2	16085729	16085729	+	Missense_Mutation	SNP	G	G	A	rs140581169		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:16085729G>A	ENST00000281043.3	+	3	1202	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ATCACTGTGCGTCCCAAGAAC	0.587			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0								G	HIS/ARG	0,4406		0,0,2203	101.0	82.0	88.0		905	4.9	0.8	2	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYCN	NM_005378.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	302/465	16085729	2,13004	2203	4300	6503	SO:0001583	missense	0			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.905G>A	2.37:g.16085729G>A	ENSP00000281043:p.Arg302His		Q53XS5|Q6LDT9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.R302H	ENST00000281043.3	37	c.905	CCDS1687.1	2	.	.	.	.	.	.	.	.	.	.	G	7.411	0.634782	0.14322	0.0	2.33E-4	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.81163	-1.46	4.94	4.94	0.65067	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	T	0.79287	0.4420	L	0.47190	1.495	0.49687	D	0.999813	P	0.51537	0.946	B	0.41571	0.36	T	0.70880	-0.4752	10	0.16420	T	0.52	-8.6368	18.5644	0.91112	0.0:0.0:1.0:0.0	.	302	P04198	MYCN_HUMAN	H	302;220	ENSP00000281043:R302H	ENSP00000281043:R302H	R	+	2	0	MYCN	16003180	1.000000	0.71417	0.838000	0.33150	0.409000	0.31022	5.127000	0.64727	2.477000	0.83638	0.655000	0.94253	CGT	MYCN	-	pfam_Tscrpt_reg_Myc_N	ENSG00000134323		0.587	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2	-	0.00	59	0	G	NM_005378		16085729	+1	tier1	rs140581169	no_errors	ENST00000281043	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.998	A
MYO10	4651	genome.wustl.edu	37	5	16670918	16670918	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:16670918G>C	ENST00000513610.1	-	39	6054	c.5600C>G	c.(5599-5601)tCa>tGa	p.S1867*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.S1206*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.S1224*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.S1206*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.S1224*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1867	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGTTTTGGTTGACTGGCTGAT	0.592																																																	0													50.0	54.0	53.0					5																	16670918		1944	4140	6084	SO:0001587	stop_gained	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5600C>G	5.37:g.16670918G>C	ENSP00000421280:p.Ser1867*		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.S1867*	ENST00000513610.1	37	c.5600	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	49	15.456202	0.99834	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	1867;1206;1224;1206;1224	.	ENSP00000274203:S1224X	S	-	2	0	MYO10	16723918	1.000000	0.71417	0.670000	0.29842	0.763000	0.43281	5.623000	0.67757	2.804000	0.96469	0.655000	0.94253	TCA	MYO10	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000145555		0.592	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1		0.00	59	0	G	NM_012334		16670918	-1			no_errors	ENST00000513610	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.999	C
NBPF6	653149	genome.wustl.edu	37	1	108993239	108993239	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:108993239G>A	ENST00000444143.2	+	2	234	c.16G>A	c.(16-18)Gac>Aac	p.D6N	NBPF6_ENST00000370040.3_Missense_Mutation_p.D6N|NBPF6_ENST00000495380.2_Missense_Mutation_p.D6N|NBPF6_ENST00000294652.8_Missense_Mutation_p.D6N			Q5VWK0	NBPF6_HUMAN	neuroblastoma breakpoint family, member 6	6						cytoplasm (GO:0005737)				endometrium(2)	2						GGTATCTGCCGACCCTTTGTC	0.517																																																	0													0.0	1.0	1.0					1																	108993239		0	10	10	SO:0001583	missense	0				CCDS44184.1	1p13.3	2013-01-17				ENSG00000186086		"""neuroblastoma breakpoint family"""	31988	protein-coding gene	gene with protein product		613996				16079250	Standard	NM_001143987		Approved		uc009wep.3	Q5VWK0	OTTHUMG00000039830	ENST00000444143.2:c.16G>A	1.37:g.108993239G>A	ENSP00000402703:p.Asp6Asn		A4QN25	Missense_Mutation	SNP	pfam_NBPF_dom	p.D6N	ENST00000444143.2	37	c.16	CCDS44184.1	1	.	.	.	.	.	.	.	.	.	.	G	5.923	0.354394	0.11239	.	.	ENSG00000186086	ENST00000444143;ENST00000412533;ENST00000294652;ENST00000370040;ENST00000495380;ENST00000531446	T;T;T;T;T	0.20200	4.19;2.09;4.24;4.19;4.24	1.87	-3.74	0.04385	.	.	.	.	.	T	0.02380	0.0073	L	0.29908	0.895	0.09310	N	1	P;D	0.53312	0.639;0.959	B;B	0.36030	0.098;0.216	T	0.12760	-1.0535	9	0.35671	T	0.21	.	1.2103	0.01903	0.2114:0.323:0.3046:0.1609	.	6;6	Q5VWK0;E9PDL3	NBPF6_HUMAN;.	N	6	ENSP00000402703:D6N;ENSP00000294652:D6N;ENSP00000359057:D6N;ENSP00000417277:D6N;ENSP00000434735:D6N	ENSP00000294652:D6N	D	+	1	0	NBPF6	108794762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.390000	0.01057	-2.859000	0.00328	-0.683000	0.03753	GAC	NBPF6	-	NULL	ENSG00000186086		0.517	NBPF6-203	KNOWN	basic|CCDS	protein_coding	NBPF6	HGNC	protein_coding	OTTHUMT00000276886.3	-	0.00	64	0	G	XM_926213		108993239	+1	tier1	-	no_errors	ENST00000370040	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.000	A
NCKAP5	344148	genome.wustl.edu	37	2	133541313	133541313	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:133541313G>A	ENST00000409261.1	-	14	3444	c.3071C>T	c.(3070-3072)gCc>gTc	p.A1024V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1024V|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1024										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGAGGGGGCATGAGCAGG	0.562																																																	0													35.0	38.0	37.0					2																	133541313		1937	4132	6069	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3071C>T	2.37:g.133541313G>A	ENSP00000387128:p.Ala1024Val		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.A1024V	ENST00000409261.1	37	c.3071	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544161	0.04024	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09911	2.93;2.93	5.25	-1.63	0.08345	.	4.360500	0.01233	U	0.008417	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.28522	-1.0041	10	0.25106	T	0.35	.	1.7967	0.03062	0.2822:0.3738:0.2119:0.1321	.	1024	O14513	NCKP5_HUMAN	V	1024	ENSP00000387128:A1024V;ENSP00000380603:A1024V	ENSP00000380603:A1024V	A	-	2	0	NCKAP5	133257783	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.008000	0.13197	-0.161000	0.10983	0.655000	0.94253	GCC	NCKAP5	-	NULL	ENSG00000176771		0.562	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0.00	33	0	G	NM_207481		133541313	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.000	A
NCKIPSD	51517	genome.wustl.edu	37	3	48719087	48719087	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:48719087G>T	ENST00000294129.2	-	5	844	c.725C>A	c.(724-726)aCa>aAa	p.T242K	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.T235K|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.T242K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	242	Pro-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTGGGGGTGTGGGTGAGCA	0.637																																																	0													27.0	32.0	30.0					3																	48719087		2203	4300	6503	SO:0001583	missense	0			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.725C>A	3.37:g.48719087G>T	ENSP00000294129:p.Thr242Lys		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.T242K	ENST00000294129.2	37	c.725	CCDS2776.1	3	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937948	0.92526	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.49720	0.77;1.39;1.39;1.3	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000002	T	0.66036	0.2749	M	0.62723	1.935	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.963;0.963;0.983	T	0.61481	-0.7054	10	0.27785	T	0.31	.	18.8863	0.92379	0.0:0.0:1.0:0.0	.	242;242;235	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	K	242;235;242;242;164;126	ENSP00000342621:T242K;ENSP00000389059:T235K;ENSP00000294129:T242K;ENSP00000409675:T242K	ENSP00000294129:T242K	T	-	2	0	NCKIPSD	48694091	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	6.369000	0.73109	2.442000	0.82660	0.563000	0.77884	ACA	NCKIPSD	-	NULL	ENSG00000213672		0.637	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257520.1		0.00	44	0	G	NM_016453		48719087	-1			no_errors	ENST00000294129	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
NCOA6	23054	genome.wustl.edu	37	20	33330205	33330205	+	Silent	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr20:33330205T>C	ENST00000374796.2	-	12	6425	c.3855A>G	c.(3853-3855)caA>caG	p.Q1285Q	NCOA6_ENST00000359003.2_Silent_p.Q1285Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1285	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGAAGGTGCTTGCCCGATGG	0.413																																																	0													106.0	106.0	106.0					20																	33330205		2203	4300	6503	SO:0001819	synonymous_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3855A>G	20.37:g.33330205T>C			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.Q1285	ENST00000374796.2	37	c.3855	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.413	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0.00	87	0	T	NM_014071		33330205	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	silent	13.46	45	7	SNP	1.000	C
NLGN1	22871	genome.wustl.edu	37	3	173997346	173997346	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:173997346G>A	ENST00000457714.1	+	6	1984	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	NLGN1_ENST00000361589.4_Missense_Mutation_p.G519S|NLGN1_ENST00000401917.3_Missense_Mutation_p.G559S|NLGN1_ENST00000545397.1_Missense_Mutation_p.G519S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	536					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.G519S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCCATGATTGGCCCTACAGA	0.448																																																	1	Substitution - Missense(1)	lung(1)											55.0	53.0	53.0					3																	173997346		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1555G>A	3.37:g.173997346G>A	ENSP00000392500:p.Gly519Ser		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G559S	ENST00000457714.1	37	c.1675	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791840	0.70452	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	L	0.31752	0.955	0.80722	D	1	D;P	0.60575	0.988;0.922	D;P	0.67900	0.954;0.866	T	0.69702	-0.5074	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	559;519	D2X2H5;Q8N2Q7-2	.;.	S	519;519;519;559	ENSP00000392500:G519S;ENSP00000354541:G519S;ENSP00000441108:G519S;ENSP00000385750:G559S	ENSP00000354541:G519S	G	+	1	0	NLGN1	175480040	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGC	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0.00	69	0	G	NM_014932		173997346	+1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A
NOP58	51602	genome.wustl.edu	37	2	203152394	203152394	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:203152394A>G	ENST00000264279.5	+	6	672	c.446A>G	c.(445-447)tAt>tGt	p.Y149C		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	149					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CTGTCTCGATATAGATTGAAG	0.338																																																	0													165.0	161.0	163.0					2																	203152394		2203	4300	6503	SO:0001583	missense	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.446A>G	2.37:g.203152394A>G	ENSP00000264279:p.Tyr149Cys		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.Y149C	ENST00000264279.5	37	c.446	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349885	0.82132	.	.	ENSG00000055044	ENST00000264279	T	0.61859	0.07	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.89534	3.04	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.83164	-0.0097	10	0.56958	D	0.05	-21.3241	15.8185	0.78624	1.0:0.0:0.0:0.0	.	149	Q9Y2X3	NOP58_HUMAN	C	149	ENSP00000264279:Y149C	ENSP00000264279:Y149C	Y	+	2	0	NOP58	202860639	1.000000	0.71417	0.955000	0.39395	0.964000	0.63967	9.067000	0.93955	2.200000	0.70718	0.482000	0.46254	TAT	NOP58	-	NULL	ENSG00000055044		0.338	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	-	0.00	95	0	A	NM_015934		203152394	+1	tier1	-	no_errors	ENST00000264279	ensembl	human	known	74_37	missense	36.84	48	28	SNP	1.000	G
NOTCH2	4853	genome.wustl.edu	37	1	120512369	120512369	+	Splice_Site	SNP	T	T	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:120512369T>A	ENST00000256646.2	-	6	1094		c.e6-2			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						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)			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)		AGAACTGTCCTTTTAGGGGGA	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													70.0	62.0	65.0					1																	120512369		2203	4300	6503	SO:0001630	splice_region_variant	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.875-2A>T	1.37:g.120512369T>A			Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	-	e6-2	ENST00000256646.2	37	c.875-2	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621203	0.87460	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120313892	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.552000	0.82192	2.186000	0.69663	0.533000	0.62120	.	NOTCH2	-	-	ENSG00000134250		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0.00	32	0	T	NM_024408	Intron	120512369	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	splice_site	9.35	97	10	SNP	1.000	A
NOV	4856	genome.wustl.edu	37	8	120430329	120430329	+	Silent	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:120430329G>C	ENST00000259526.3	+	3	569	c.342G>C	c.(340-342)ggG>ggC	p.G114G	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TGTTCGATGGGGTCATCTACC	0.488																																																	0													104.0	108.0	107.0					8																	120430329		2203	4300	6503	SO:0001819	synonymous_variant	0			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.342G>C	8.37:g.120430329G>C				Silent	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.G114	ENST00000259526.3	37	c.342	CCDS6328.1	8																																																																																			NOV	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000136999		0.488	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOV	HGNC	protein_coding	OTTHUMT00000381301.1	-	0.00	153	0	G	NM_002514		120430329	+1	tier1	-	no_errors	ENST00000259526	ensembl	human	known	74_37	silent	7.69	96	8	SNP	0.502	C
NPAS2	4862	genome.wustl.edu	37	2	101565927	101565927	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:101565927C>T	ENST00000335681.5	+	7	868	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.R260C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	195					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAAATTTTCGCTCTTACAA	0.393																																																	0													67.0	67.0	67.0					2																	101565927		2203	4300	6503	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.583C>T	2.37:g.101565927C>T	ENSP00000338283:p.Arg195Cys		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.R260C	ENST00000335681.5	37	c.778	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159280|3.159280	0.57368|0.57368	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000448812	T;T|.	0.07908|.	3.17;3.15|.	5.04|5.04	4.16|4.16	0.48862|0.48862	.|.	0.135640|.	0.52532|.	D|.	0.000065|.	T|T	0.63379|0.63379	0.2506|0.2506	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71870|.	0.975;0.943|.	T|T	0.62277|0.62277	-0.6888|-0.6888	10|5	0.87932|.	D|.	0|.	.|.	8.5403|8.5403	0.33388|0.33388	0.1541:0.7701:0.0:0.0758|0.1541:0.7701:0.0:0.0758	.|.	260;195|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	195;260|184	ENSP00000338283:R195C;ENSP00000438428:R260C|.	ENSP00000338283:R195C|.	R|S	+|+	1|2	0|0	NPAS2|NPAS2	100932359|100932359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.186000|4.186000	0.58337|0.58337	1.341000|1.341000	0.45600|0.45600	0.655000|0.655000	0.94253|0.94253	CGC|TCG	NPAS2	-	NULL	ENSG00000170485		0.393	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	-	0.00	32	0	C			101565927	+1	tier1	-	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
NUP160	23279	genome.wustl.edu	37	11	47809748	47809748	+	Silent	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:47809748T>C	ENST00000378460.2	-	31	3778	c.3732A>G	c.(3730-3732)gaA>gaG	p.E1244E	NUP160_ENST00000530326.1_Silent_p.E1130E	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1244					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGGCAAGCCCTTCAAAGACTG	0.403																																																	0													48.0	46.0	46.0					11																	47809748		2201	4298	6499	SO:0001819	synonymous_variant	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3732A>G	11.37:g.47809748T>C			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	pfam_Nucleoporin_Nup160	p.E1244	ENST00000378460.2	37	c.3732	CCDS31484.1	11																																																																																			NUP160	-	NULL	ENSG00000030066		0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2		0.00	35	0	T	NM_015231		47809748	-1			no_errors	ENST00000378460	ensembl	human	known	74_37	silent	12.50	21	3	SNP	1.000	C
NRXN2	9379	genome.wustl.edu	37	11	64435121	64435121	+	Missense_Mutation	SNP	G	G	A	rs142409712		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:64435121G>A	ENST00000377551.1	-	8	1610	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NRXN2_ENST00000265459.6_Missense_Mutation_p.R467C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R460C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R436C			Q9P2S2	NRX2A_HUMAN	neurexin 2	467	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTTGCCAGGCGGGATAGTTCC	0.557																																																	0								G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	64.0	69.0	67.0		1399,1306	3.6	1.0	11	dbSNP_134	67	0,8594		0,0,4297	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	180,180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	467/1713,436/1643	64435121	1,12995	2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1399C>T	11.37:g.64435121G>A	ENSP00000366774:p.Arg467Cys		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R467C	ENST00000377551.1	37	c.1399	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966006	0.74131	2.27E-4	0.0	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	T;T;T;T;T	0.80304	0.0;0.09;0.0;0.1;-1.36	4.63	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.41938	U	0.000799	D	0.86644	0.5982	M	0.64404	1.975	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.85130	0.997;0.913;0.819	D	0.87415	0.2378	10	0.87932	D	0	.	11.6657	0.51372	0.0:0.0:0.8118:0.1882	.	436;467;213	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	C	467;436;467;436;460;223	ENSP00000366774:R467C;ENSP00000366782:R436C;ENSP00000265459:R467C;ENSP00000386416:R460C;ENSP00000388971:R223C	ENSP00000265459:R467C	R	-	1	0	NRXN2	64191697	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.408000	0.59761	2.392000	0.81423	0.462000	0.41574	CGC	NRXN2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000110076		0.557	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0.00	50	0	G	NM_015080		64435121	-1	tier1	rs142409712	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	A
OR4K13	390433	genome.wustl.edu	37	14	20502224	20502224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:20502224G>A	ENST00000315693.2	-	1	695	c.694C>T	c.(694-696)Cga>Tga	p.R232*	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTAGAGGATCGACTAGCAGCA	0.493																																																	0													139.0	124.0	129.0					14																	20502224		2203	4300	6503	SO:0001587	stop_gained	0				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.694C>T	14.37:g.20502224G>A	ENSP00000319322:p.Arg232*		Q6IF13	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R232*	ENST00000315693.2	37	c.694	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	10.81	1.454671	0.26161	.	.	ENSG00000176253	ENST00000315693	.	.	.	3.46	1.58	0.23477	.	0.393919	0.18036	U	0.153795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.3575	0.11185	0.0:0.5799:0.197:0.2231	.	.	.	.	X	232	.	ENSP00000319322:R232X	R	-	1	2	OR4K13	19572064	0.000000	0.05858	0.014000	0.15608	0.073000	0.16967	-2.735000	0.00802	0.163000	0.19507	-0.431000	0.05894	CGA	OR4K13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176253		0.493	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	-	0.00	21	0	G			20502224	-1	tier1	-	no_errors	ENST00000315693	ensembl	human	known	74_37	nonsense	35.71	18	10	SNP	0.047	A
OSBPL9	114883	genome.wustl.edu	37	1	52253066	52253066	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:52253066T>C	ENST00000428468.1	+	23	2044	c.2042T>C	c.(2041-2043)aTt>aCt	p.I681T	OSBPL9_ENST00000337809.4_Missense_Mutation_p.I686T|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I699T|NRD1_ENST00000485608.1_5'Flank|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I600T|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I516T|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I668T|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I691T|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I503T|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I503T|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I664T|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I571T|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I516T			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	681					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCAGAGACATTGATGCAGCA	0.448																																																	0													122.0	119.0	120.0					1																	52253066		2203	4300	6503	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.2042T>C	1.37:g.52253066T>C	ENSP00000407168:p.Ile681Thr		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I699T	ENST00000428468.1	37	c.2096	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253088	0.80135	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D	0.67145	0.968;0.986;0.976;0.989;0.996	D;D;D;D;D	0.70487	0.969;0.939;0.932;0.964;0.953	T	0.63834	-0.6547	10	0.87932	D	0	-10.4803	15.545	0.76090	0.0:0.0:0.0:1.0	.	664;571;697;681;686	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	T	668;699;686;691;516;681;664;600;516;571;503;503	ENSP00000360779:I668T;ENSP00000360775:I699T;ENSP00000337265:I686T;ENSP00000412733:I691T;ENSP00000402646:I516T;ENSP00000407168:I681T;ENSP00000413263:I664T;ENSP00000433675:I600T;ENSP00000433083:I516T;ENSP00000354970:I571T;ENSP00000433279:I503T;ENSP00000431980:I503T	ENSP00000337265:I686T	I	+	2	0	OSBPL9	52025654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.321000	0.79088	2.266000	0.75297	0.529000	0.55759	ATT	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.448	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	-	0.00	31	0	T			52253066	+1	tier1	-	no_errors	ENST00000371710	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	C
PARP4	143	genome.wustl.edu	37	13	25021304	25021304	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr13:25021304C>T	ENST00000381989.3	-	26	3240	c.3135G>A	c.(3133-3135)agG>agA	p.R1045R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1045	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGAACATAGCCTGGTCATTT	0.443																																																	0													57.0	56.0	56.0					13																	25021304		2203	4300	6503	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3135G>A	13.37:g.25021304C>T			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.R1045	ENST00000381989.3	37	c.3135	CCDS9307.1	13																																																																																			PARP4	-	pfscan_VWF_A	ENSG00000102699		0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0.00	50	0	C	NM_006437		25021304	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.093	T
PCDH10	57575	genome.wustl.edu	37	4	134073819	134073819	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:134073819C>A	ENST00000264360.5	+	1	3350	c.2524C>A	c.(2524-2526)Cct>Act	p.P842T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	842					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCTGCAGCCCTTCGCGGAG	0.572																																																	0													87.0	79.0	82.0					4																	134073819		2203	4300	6503	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2524C>A	4.37:g.134073819C>A	ENSP00000264360:p.Pro842Thr		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P842T	ENST00000264360.5	37	c.2524	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918187	0.52546	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	5.13	5.13	0.70059	.	0.000000	0.44902	D	0.000413	T	0.65801	0.2726	L	0.49350	1.555	0.80722	D	1	D;D	0.67145	0.961;0.996	P;P	0.61201	0.522;0.885	T	0.67333	-0.5697	10	0.54805	T	0.06	.	18.2039	0.89848	0.0:1.0:0.0:0.0	.	842;842	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	842	ENSP00000264360:P842T	ENSP00000264360:P842T	P	+	1	0	PCDH10	134293269	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.456000	0.80751	2.387000	0.81309	0.650000	0.86243	CCT	PCDH10	-	NULL	ENSG00000138650		0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0.00	44	0	C	NM_032961		134073819	+1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A
PCDH19	57526	genome.wustl.edu	37	X	99662990	99662990	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chrX:99662990C>T	ENST00000373034.4	-	1	2281	c.606G>A	c.(604-606)tcG>tcA	p.S202S	PCDH19_ENST00000255531.7_Silent_p.S202S|PCDH19_ENST00000420881.2_Silent_p.S202S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	202	Cadherin 2. {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.S202S(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCTGTAGTGCGACTGCGTCT	0.632																																																	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											55.0	58.0	57.0					X																	99662990		2163	4238	6401	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.606G>A	X.37:g.99662990C>T			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S202	ENST00000373034.4	37	c.606	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.632	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	-	0.00	26	0	C	NM_020766		99662990	-1	tier1	-	no_errors	ENST00000373034	ensembl	human	known	74_37	silent	22.86	27	8	SNP	0.094	T
PCDHB11	56125	genome.wustl.edu	37	5	140580848	140580848	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:140580848G>T	ENST00000354757.3	+	1	1501	c.1501G>T	c.(1501-1503)Gcc>Tcc	p.A501S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A136S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.647																																																	0													112.0	119.0	117.0					5																	140580848		2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1501G>T	5.37:g.140580848G>T	ENSP00000346802:p.Ala501Ser		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A501S	ENST00000354757.3	37	c.1501	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	g	1.462	-0.562262	0.03939	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01192	5.2;5.2	2.51	-1.27	0.09347	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00524	0.0017	N	0.00652	-1.29	0.20403	N	0.999907	B	0.28128	0.201	B	0.40864	0.342	T	0.48281	-0.9049	9	0.02654	T	1	.	5.1843	0.15176	0.1172:0.0:0.4342:0.4486	.	501	Q9Y5F2	PCDBB_HUMAN	S	136;501	ENSP00000440344:A136S;ENSP00000346802:A501S	ENSP00000346802:A501S	A	+	1	0	PCDHB11	140561032	0.000000	0.05858	0.006000	0.13384	0.174000	0.22865	-1.836000	0.01690	-0.042000	0.13535	0.298000	0.19748	GCC	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.647	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0.00	151	0	G	NM_018931		140580848	+1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	25.97	113	40	SNP	0.782	T
PCIF1	63935	genome.wustl.edu	37	20	44573647	44573647	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr20:44573647C>T	ENST00000372409.3	+	11	1510	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	382					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCTTGCCATCCTCAAGGAAA	0.542																																																	0													83.0	69.0	74.0					20																	44573647		2202	4300	6502	SO:0001819	synonymous_variant	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1146C>T	20.37:g.44573647C>T			E1P5P1|Q54AB9|Q9NT85	Silent	SNP	pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.I382	ENST00000372409.3	37	c.1146	CCDS13388.1	20																																																																																			PCIF1	-	NULL	ENSG00000100982		0.542	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	-	0.00	39	0	C	NM_022104		44573647	+1	tier1	-	no_errors	ENST00000372409	ensembl	human	known	74_37	silent	16.67	40	8	SNP	1.000	T
PCK2	5106	genome.wustl.edu	37	14	24572370	24572370	+	Splice_Site	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:24572370G>T	ENST00000216780.4	+	9	1642	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G	PCK2_ENST00000545054.2_Splice_Site_p.G324G|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000561286.1_Splice_Site_p.G324G|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Splice_Site_p.G470G	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	458					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GTGATCTAGGGGTACCCCTGG	0.552																																																	0													116.0	96.0	103.0					14																	24572370		2203	4300	6503	SO:0001630	splice_region_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1373-1G>T	14.37:g.24572370G>T			O43253|Q86U01|Q9BV62	Silent	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.G458	ENST00000216780.4	37	c.1374	CCDS9609.1	14																																																																																			PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.552	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	-	0.00	87	0	G	NM_001018073	Silent	24572370	+1	tier1	-	no_errors	ENST00000216780	ensembl	human	known	74_37	silent	8.49	97	9	SNP	0.953	T
PDE1B	5153	genome.wustl.edu	37	12	54963024	54963024	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:54963024C>T	ENST00000243052.3	+	4	720	c.284C>T	c.(283-285)tCg>tTg	p.S95L	PDE1B_ENST00000538346.1_Missense_Mutation_p.S54L|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Missense_Mutation_p.S75L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	95					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCCGTGCCTTCGGAGGTGCGG	0.637																																																	0													60.0	64.0	63.0					12																	54963024		2203	4300	6503	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.284C>T	12.37:g.54963024C>T	ENSP00000243052:p.Ser95Leu		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S95L	ENST00000243052.3	37	c.284	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381531	0.61845	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70282	-0.47;-0.44;-0.44	4.97	4.97	0.65823	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.237399	0.35436	N	0.003205	T	0.69251	0.3090	M	0.63428	1.95	0.44562	D	0.99752	B;B	0.25772	0.11;0.134	B;B	0.27380	0.032;0.079	T	0.67499	-0.5655	10	0.39692	T	0.17	.	16.096	0.81123	0.0:1.0:0.0:0.0	.	75;95	Q01064-2;Q01064	.;PDE1B_HUMAN	L	95;54;75	ENSP00000243052:S95L;ENSP00000442559:S54L;ENSP00000448519:S75L	ENSP00000243052:S95L	S	+	2	0	PDE1B	53249291	0.994000	0.37717	0.981000	0.43875	0.990000	0.78478	4.793000	0.62474	2.459000	0.83118	0.655000	0.94253	TCG	PDE1B	-	pfam_PDEase_N	ENSG00000123360		0.637	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	-	0.00	107	0	C			54963024	+1	tier1	-	no_errors	ENST00000243052	ensembl	human	known	74_37	missense	14.86	63	11	SNP	0.969	T
PHLDB2	90102	genome.wustl.edu	37	3	111603832	111603832	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:111603832A>G	ENST00000431670.2	+	2	1319	c.908A>G	c.(907-909)aAt>aGt	p.N303S	PHLDB2_ENST00000412622.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.N330S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.N303S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	303						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATTACCTTAATTTTTCTTCT	0.438																																																	0													69.0	73.0	72.0					3																	111603832		2203	4300	6503	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.908A>G	3.37:g.111603832A>G	ENSP00000405405:p.Asn303Ser		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N303S	ENST00000431670.2	37	c.908	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408974	0.25378	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.35789	1.29;1.43;1.31;1.41;1.43;1.31	5.4	1.67	0.24075	.	0.408346	0.28895	N	0.013798	T	0.13372	0.0324	N	0.08118	0	0.31498	N	0.665107	B;B;B;B;B	0.24317	0.001;0.005;0.101;0.001;0.005	B;B;B;B;B	0.22601	0.0;0.02;0.04;0.001;0.007	T	0.25676	-1.0125	10	0.07990	T	0.79	.	5.0805	0.14653	0.6808:0.1556:0.1636:0.0	.	303;303;303;303;330	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	S	330;330;303;303;303;303;303;303;303	ENSP00000377500:N330S;ENSP00000405405:N303S;ENSP00000405292:N303S;ENSP00000418296:N303S;ENSP00000377502:N303S;ENSP00000418319:N303S	ENSP00000352764:N330S	N	+	2	0	PHLDB2	113086522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.047000	0.41269	0.426000	0.26116	0.533000	0.62120	AAT	PHLDB2	-	NULL	ENSG00000144824		0.438	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	-	0.00	40	0	A	NM_145753		111603832	+1	tier1	-	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G
PITRM1	10531	genome.wustl.edu	37	10	3185729	3185729	+	Intron	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:3185729G>C	ENST00000224949.4	-	23	2567				PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Intron|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGGCTGTGCTGCCATGCACCG	0.632																																																	0													51.0	56.0	54.0					10																	3185729		2086	4199	6285	SO:0001627	intron_variant	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2533-36C>G	10.37:g.3185729G>C			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	RNA	SNP	-	NULL	ENST00000224949.4	37	NULL	CCDS59208.1	10																																																																																			PITRM1	-	-	ENSG00000107959		0.632	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0.00	30	0	G			3185729	-1	tier1	-	no_errors	ENST00000464395	ensembl	human	known	74_37	rna	50.00	7	7	SNP	0.000	C
PITRM1	10531	genome.wustl.edu	37	10	3185733	3185733	+	Intron	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:3185733T>C	ENST00000224949.4	-	23	2567				PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Intron|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGTGCTGCCATGCACCGCCCA	0.637																																																	0													50.0	54.0	53.0					10																	3185733		2082	4201	6283	SO:0001627	intron_variant	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2533-40A>G	10.37:g.3185733T>C			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	RNA	SNP	-	NULL	ENST00000224949.4	37	NULL	CCDS59208.1	10																																																																																			PITRM1	-	-	ENSG00000107959		0.637	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0.00	29	0	T			3185733	-1	tier1	-	no_errors	ENST00000464395	ensembl	human	known	74_37	rna	46.67	8	7	SNP	0.000	C
PITRM1	10531	genome.wustl.edu	37	10	3185763	3185764	+	Intron	INS	-	-	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:3185763_3185764insT	ENST00000224949.4	-	23	2567				PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Intron|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Intron			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1						positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACTGGACCCACTCAGGGGTCA	0.653																																																	0																																										SO:0001627	intron_variant	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2533-70->A	10.37:g.3185763_3185764insT			B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	RNA	INS	-	NULL	ENST00000224949.4	37	NULL	CCDS59208.1	10																																																																																			PITRM1	-	-	ENSG00000107959		0.653	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2		0.00	26	0	-			3185764	-1	tier1		no_errors	ENST00000464395	ensembl	human	known	74_37	rna	23.08	10	3	INS	0.013:0.011	T
PITRM1	10531	genome.wustl.edu	37	10	3197875	3197875	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:3197875T>C	ENST00000224949.4	-	14	1563	c.1529A>G	c.(1528-1530)tAt>tGt	p.Y510C	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.Y68C|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Y478C|PITRM1_ENST00000380989.2_Missense_Mutation_p.Y510C			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	510					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTTCTCGTGATACTTGTCATC	0.488																																																	0													119.0	121.0	120.0					10																	3197875		2076	4226	6302	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1529A>G	10.37:g.3197875T>C	ENSP00000224949:p.Tyr510Cys		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.Y510C	ENST00000224949.4	37	c.1529	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	t	13.45	2.241209	0.39598	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.37	5.37	0.77165	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.110450	0.64402	D	0.000005	T	0.54078	0.1836	M	0.86740	2.835	0.46113	D	0.998874	D;D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.79108	0.827;0.987;0.986;0.992;0.992;0.992	T	0.61257	-0.7099	10	0.72032	D	0.01	.	11.1467	0.48434	0.1381:0.0:0.0:0.8619	.	503;478;510;510;510;503	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	C	510;503;510;68;478	ENSP00000224949:Y510C;ENSP00000370377:Y510C;ENSP00000370382:Y68C;ENSP00000401201:Y478C	ENSP00000224949:Y510C	Y	-	2	0	PITRM1	3187875	1.000000	0.71417	0.929000	0.37066	0.085000	0.17905	3.213000	0.51153	2.164000	0.68074	0.460000	0.39030	TAT	PITRM1	-	pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.488	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0.00	44	0	T			3197875	-1	tier1	-	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.988	C
PLAGL2	5326	genome.wustl.edu	37	20	30784583	30784583	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr20:30784583G>A	ENST00000246229.4	-	3	1427	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	388					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAGGAGGGCCGCAGCTGCCGC	0.612																																					Colon(163;15 1893 11280 16306 47518)												0													19.0	21.0	20.0					20																	30784583		2200	4299	6499	SO:0001583	missense	0				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1163C>T	20.37:g.30784583G>A	ENSP00000246229:p.Ala388Val		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A388V	ENST00000246229.4	37	c.1163	CCDS13197.1	20	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442234	0.25987	.	.	ENSG00000126003	ENST00000246229	T	0.08282	3.11	4.13	4.13	0.48395	.	0.065191	0.64402	D	0.000011	T	0.03739	0.0106	N	0.08118	0	0.32486	N	0.540866	B	0.33694	0.421	B	0.23716	0.048	T	0.16660	-1.0395	10	0.40728	T	0.16	.	9.5865	0.39519	0.0:0.0:0.7914:0.2086	.	388	Q9UPG8	PLAL2_HUMAN	V	388	ENSP00000246229:A388V	ENSP00000246229:A388V	A	-	2	0	PLAGL2	30248244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.097000	0.64542	2.590000	0.87494	0.650000	0.86243	GCG	PLAGL2	-	NULL	ENSG00000126003		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL2	HGNC	protein_coding	OTTHUMT00000078615.2	-	0.00	52	0	G	NM_002657		30784583	-1	tier1	-	no_errors	ENST00000246229	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A
PLEKHA8P1	51054	genome.wustl.edu	37	12	45568029	45568029	+	RNA	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:45568029T>C	ENST00000256692.5	-	0	656					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACAGGTTGATTTCAGCAAAG	0.453																																																	0													237.0	228.0	231.0					12																	45568029		2203	4300	6503			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568029T>C				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-	ENSG00000134297		0.453	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1		0.00	81	0	T	NR_037144		45568029	-1			no_errors	ENST00000256692	ensembl	human	known	74_37	rna	8.93	51	5	SNP	1.000	C
POLR2C	5432	genome.wustl.edu	37	16	57504037	57504038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:57504037_57504038insA	ENST00000219252.5	+	7	942_943	c.604_605insA	c.(604-606)gaafs	p.E202fs	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	202					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAAGCCCGAGGAATGGTATGTT	0.535																																																	0																																										SO:0001589	frameshift_variant	0				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.606dupA	16.37:g.57504039_57504039dupA	ENSP00000219252:p.Glu202fs		O15161	Frame_Shift_Ins	INS	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.W203fs	ENST00000219252.5	37	c.604_605	CCDS10782.1	16																																																																																			POLR2C	-	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000102978		0.535	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3		0.00	92	0	-	NM_032940		57504038	+1	tier1		no_errors	ENST00000219252	ensembl	human	known	74_37	frame_shift_ins	25.53	70	24	INS	1.000:1.000	A
PRAMEF10	343071	genome.wustl.edu	37	1	12954510	12954510	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:12954510T>A	ENST00000235347.4	-	3	852	c.773A>T	c.(772-774)gAc>gTc	p.D258V		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	258					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGTCCAAGTCAGGAATGCA	0.483																																																	0													237.0	168.0	190.0					1																	12954510		1964	4124	6088	SO:0001583	missense	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.773A>T	1.37:g.12954510T>A	ENSP00000235347:p.Asp258Val		Q2M1V2	Missense_Mutation	SNP	NULL	p.D258V	ENST00000235347.4	37	c.773	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	8.165	0.790297	0.16258	.	.	ENSG00000187545	ENST00000235347	T	0.17854	2.25	1.57	1.57	0.23409	.	0.924004	0.09187	N	0.836646	T	0.09202	0.0227	N	0.22421	0.69	0.09310	N	1	P	0.44044	0.825	B	0.34093	0.175	T	0.23226	-1.0194	10	0.62326	D	0.03	.	5.2552	0.15544	0.0:0.0:0.0:1.0	.	258	O60809	PRA10_HUMAN	V	258	ENSP00000235347:D258V	ENSP00000235347:D258V	D	-	2	0	PRAMEF10	12877097	0.001000	0.12720	0.001000	0.08648	0.163000	0.22366	1.199000	0.32235	0.969000	0.38237	0.163000	0.16589	GAC	PRAMEF10	-	NULL	ENSG00000187545		0.483	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	-	0.00	123	0	T	XM_496342		12954510	-1	tier1	-	no_errors	ENST00000235347	ensembl	human	known	74_37	missense	11.63	152	20	SNP	0.001	A
PRELP	5549	genome.wustl.edu	37	1	203453189	203453189	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:203453189C>A	ENST00000343110.2	+	2	1004	c.877C>A	c.(877-879)Ctg>Atg	p.L293M		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	293					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCTCCAACCTGCTTGTGCT	0.498																																																	0													56.0	59.0	58.0					1																	203453189		2203	4300	6503	SO:0001583	missense	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.877C>A	1.37:g.203453189C>A	ENSP00000343924:p.Leu293Met		Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L293M	ENST00000343110.2	37	c.877	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016943	0.54576	.	.	ENSG00000188783	ENST00000343110	T	0.31247	1.5	4.6	2.69	0.31865	.	0.000000	0.64402	D	0.000007	T	0.56834	0.2012	M	0.88570	2.965	0.47737	D	0.999509	D	0.76494	0.999	D	0.81914	0.995	T	0.58482	-0.7629	10	0.72032	D	0.01	-22.8615	8.9102	0.35548	0.0:0.811:0.0:0.189	.	293	P51888	PRELP_HUMAN	M	293	ENSP00000343924:L293M	ENSP00000343924:L293M	L	+	1	2	PRELP	201719812	0.973000	0.33851	1.000000	0.80357	0.939000	0.58152	0.218000	0.17622	0.374000	0.24650	0.462000	0.41574	CTG	PRELP	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000188783		0.498	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	-	0.00	25	0	C	NM_002725		203453189	+1	tier1	-	no_errors	ENST00000343110	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	A
PRKD3	23683	genome.wustl.edu	37	2	37516571	37516571	+	Silent	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:37516571T>C	ENST00000379066.1	-	5	1407	c.645A>G	c.(643-645)gtA>gtG	p.V215V	PRKD3_ENST00000234179.2_Silent_p.V215V			O94806	KPCD3_HUMAN	protein kinase D3	215					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGTAAAGATACATTTGACA	0.408																																					Melanoma(80;621 1355 8613 11814 51767)												0													110.0	105.0	107.0					2																	37516571		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.645A>G	2.37:g.37516571T>C			D6W587|Q53TR7|Q8NEL8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.V215	ENST00000379066.1	37	c.645	CCDS1789.1	2																																																																																			PRKD3	-	NULL	ENSG00000115825		0.408	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	-	0.00	70	0	T	NM_005813		37516571	-1	tier1	-	no_errors	ENST00000234179	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.620	C
PTPRF	5792	genome.wustl.edu	37	1	44063676	44063676	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:44063676G>C	ENST00000359947.4	+	12	2411	c.2071G>C	c.(2071-2073)Ggc>Cgc	p.G691R	PTPRF_ENST00000422171.2_Intron|PTPRF_ENST00000372413.3_Missense_Mutation_p.G691R|PTPRF_ENST00000372414.3_Missense_Mutation_p.G691R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G691R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	691	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAGACGTGGGCCCCGGCCC	0.697																																																	0													26.0	28.0	27.0					1																	44063676		2095	4124	6219	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2071G>C	1.37:g.44063676G>C	ENSP00000353030:p.Gly691Arg		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.G691R	ENST00000359947.4	37	c.2071	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.180844|4.180844	0.78677|0.78677	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000429895	T;T;T;T|.	0.68765|.	-0.35;-0.11;-0.35;-0.11|.	3.36|3.36	3.36|3.36	0.38483|0.38483	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	D|D	0.88713|0.88713	0.6511|0.6511	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	B;D;D;D|.	0.89917|.	0.283;1.0;1.0;0.996|.	P;D;D;D|.	0.97110|.	0.529;1.0;0.999;0.984|.	D|D	0.93459|0.93459	0.6809|0.6809	9|5	0.59425|.	D|.	0.04|.	.|.	15.0753|15.0753	0.72071|0.72071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	347;450;691;691|.	Q59FI2;Q5W9G3;P10586-2;P10586|.	.;.;.;PTPRF_HUMAN|.	R|C	691|347	ENSP00000353030:G691R;ENSP00000398822:G691R;ENSP00000361491:G691R;ENSP00000361490:G691R|.	ENSP00000353030:G691R|.	G|W	+|+	1|3	0|0	PTPRF|PTPRF	43836263|43836263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	9.399000|9.399000	0.97285|0.97285	1.613000|1.613000	0.50231|0.50231	0.313000|0.313000	0.20887|0.20887	GGC|TGG	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142949		0.697	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0.00	50	0	G			44063676	+1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	38.46	40	25	SNP	1.000	C
RAD21	5885	genome.wustl.edu	37	8	117887052	117887052	+	5'UTR	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:117887052A>G	ENST00000297338.2	-	0	53				MIR3610_ENST00000582903.1_RNA|RAD21-AS1_ENST00000521487.2_RNA|RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGCCGCCCAAATCCTCGGTTC	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.-235T>C	8.37:g.117887052A>G			A8K0E0|Q15001|Q99568	RNA	SNP	-	NULL	ENST00000297338.2	37	NULL	CCDS6321.1	8																																																																																			RAD21-AS1	-	-	ENSG00000253327		0.647	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21-AS1	HGNC	protein_coding	OTTHUMT00000381184.1	-	0.00	56	0	A	NM_006265		117887052	+1	tier1	-	no_errors	ENST00000521487	ensembl	human	known	74_37	rna	45.95	20	17	SNP	1.000	G
RASGEF1C	255426	genome.wustl.edu	37	5	179545653	179545653	+	Missense_Mutation	SNP	C	C	T	rs146808625		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:179545653C>T	ENST00000393371.2	-	9	1335	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G347R|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G196R|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	347	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-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)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCCGCCCCGCGCAGGGCT	0.677																																																	0								C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	56.0	65.0	62.0		1039	4.2	0.3	5	dbSNP_134	62	1,8599		0,1,4299	no	missense	RASGEF1C	NM_175062.3	125	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	347/467	179545653	3,13003	2203	4300	6503	SO:0001583	missense	0			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1039G>A	5.37:g.179545653C>T	ENSP00000377037:p.Gly347Arg		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G347R	ENST00000393371.2	37	c.1039	CCDS4452.1	5	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383828	0.61845	4.54E-4	1.16E-4	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.28895	1.59;1.59;1.59	4.18	4.18	0.49190	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.057197	0.64402	D	0.000001	T	0.27832	0.0685	L	0.31157	0.91	0.58432	D	0.999997	P	0.46784	0.884	P	0.45195	0.473	T	0.02885	-1.1098	10	0.30078	T	0.28	.	15.9577	0.79898	0.0:1.0:0.0:0.0	.	347	Q8N431	RGF1C_HUMAN	R	347;347;196	ENSP00000354963:G347R;ENSP00000377037:G347R;ENSP00000429114:G196R	ENSP00000354963:G347R	G	-	1	0	RASGEF1C	179478259	1.000000	0.71417	0.274000	0.24659	0.143000	0.21401	6.952000	0.75989	2.268000	0.75426	0.313000	0.20887	GGG	RASGEF1C	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000146090		0.677	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2		0.00	66	0	C	NM_175062		179545653	-1			no_errors	ENST00000361132	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.999	T
RBBP4	5928	genome.wustl.edu	37	1	33138069	33138069	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:33138069A>T	ENST00000373493.5	+	9	1144	c.985A>T	c.(985-987)Aat>Tat	p.N329Y	RBBP4_ENST00000544435.1_Missense_Mutation_p.N77Y|RBBP4_ENST00000414241.3_Missense_Mutation_p.N328Y|RBBP4_ENST00000458695.2_Missense_Mutation_p.N294Y|RBBP4_ENST00000373485.1_Missense_Mutation_p.N329Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	329					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GTCACCTCACAATGAGACTAT	0.333																																																	0													88.0	82.0	84.0					1																	33138069		2203	4299	6502	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.985A>T	1.37:g.33138069A>T	ENSP00000362592:p.Asn329Tyr		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N329Y	ENST00000373493.5	37	c.985	CCDS366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.65|16.65	3.182100|3.182100	0.57800|0.57800	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000475321	T;T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23|.	4.69|4.69	4.69|4.69	0.59074|0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	B;B|.	0.26577|.	0.153;0.047|.	B;B|.	0.25884|.	0.061;0.064|.	T|T	0.74450|0.74450	-0.3661|-0.3661	10|5	0.48119|.	T|.	0.1|.	.|.	13.6412|13.6412	0.62253|0.62253	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	328;329|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	Y|L	328;329;77;329;294;67|131	ENSP00000398242:N328Y;ENSP00000362592:N329Y;ENSP00000442384:N77Y;ENSP00000362584:N329Y;ENSP00000396057:N294Y;ENSP00000436565:N67Y|.	ENSP00000362584:N329Y|.	N|Q	+|+	1|2	0|0	RBBP4|RBBP4	32910656|32910656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.215000|9.215000	0.95146|0.95146	1.895000|1.895000	0.54865|0.54865	0.383000|0.383000	0.25322|0.25322	AAT|CAA	RBBP4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162521		0.333	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	-	0.00	60	0	A	NM_005610		33138069	+1	tier1	-	no_errors	ENST00000373493	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	T
RGL3	57139	genome.wustl.edu	37	19	11527321	11527321	+	Missense_Mutation	SNP	G	G	A	rs140982044		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:11527321G>A	ENST00000380456.3	-	4	455	c.392C>T	c.(391-393)gCg>gTg	p.A131V	RGL3_ENST00000393423.3_Missense_Mutation_p.A131V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	131	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ATCTTGTACCGCTGTCTTCTT	0.567																																					GBM(174;751 2067 17998 27979 33959)												0								G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	112.0	103.0	106.0		392,392	0.6	0.0	19	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RGL3	NM_001035223.2,NM_001161616.1	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	131/711,131/717	11527321	2,13004	2203	4300	6503	SO:0001583	missense	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.392C>T	19.37:g.11527321G>A	ENSP00000369823:p.Ala131Val		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A131V	ENST00000380456.3	37	c.392	CCDS32910.1	19	.	.	.	.	.	.	.	.	.	.	G	9.520	1.108001	0.20714	2.27E-4	1.16E-4	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.48522	0.81;0.81	3.95	0.579	0.17397	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.340130	0.04740	N	0.422723	T	0.34395	0.0896	L	0.40543	1.245	0.09310	N	1	B;P	0.47677	0.128;0.899	B;B	0.40410	0.053;0.328	T	0.16630	-1.0396	10	0.30078	T	0.28	.	1.251	0.01982	0.1736:0.1087:0.2021:0.5156	.	131;131	Q3MIN7;B5ME84	RGL3_HUMAN;.	V	131	ENSP00000377075:A131V;ENSP00000369823:A131V	ENSP00000369823:A131V	A	-	2	0	RGL3	11388321	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.010000	0.12743	-0.073000	0.12842	-1.432000	0.01085	GCG	RGL3	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000205517		0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	-	0.00	117	0	G	XM_290867		11527321	-1	tier1	rs140982044	no_errors	ENST00000393423	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.001	A
RDH13	112724	genome.wustl.edu	37	19	55559827	55559827	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:55559827G>A	ENST00000415061.3	-	5	671	c.528C>T	c.(526-528)gcC>gcT	p.A176A	RDH13_ENST00000396247.3_Silent_p.A105A|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	176					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CAGCAACATGGGCCAGGGACG	0.527																																																	0													78.0	80.0	80.0					19																	55559827		2018	4180	6198	SO:0001819	synonymous_variant	0				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.528C>T	19.37:g.55559827G>A			Q6UX79|Q96G88	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A176	ENST00000415061.3	37	c.528	CCDS54320.1	19																																																																																			RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	ENSG00000160439		0.527	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1		0.00	44	0	G	NM_138412		55559827	-1			no_errors	ENST00000415061	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.963	A
RGS12	6002	genome.wustl.edu	37	4	3418649	3418649	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:3418649C>A	ENST00000344733.5	+	8	3341	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.L813I|RGS12_ENST00000306648.7_Missense_Mutation_p.L211I|RGS12_ENST00000538395.1_Missense_Mutation_p.L155I|RGS12_ENST00000338806.4_Missense_Mutation_p.L165I|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.L813I	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	813	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATCTTCAATCTCATGAAGTT	0.577																																																	0													78.0	79.0	78.0					4																	3418649		2203	4300	6503	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2437C>A	4.37:g.3418649C>A	ENSP00000339381:p.Leu813Ile		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.L813I	ENST00000344733.5	37	c.2437	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583863	0.65992	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06	4.5	2.72	0.32119	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000003	T	0.20333	0.0489	M	0.92691	3.335	0.52501	D	0.999952	B;D;D;D;P;P;B;B;B	0.63046	0.41;0.992;0.969;0.992;0.609;0.723;0.41;0.434;0.38	P;D;D;D;P;D;P;P;P	0.74674	0.863;0.913;0.984;0.913;0.862;0.961;0.903;0.822;0.728	T	0.01065	-1.1463	10	0.87932	D	0	-19.9544	8.647	0.34011	0.0:0.7328:0.0:0.2672	.	155;12;155;12;155;165;211;813;813	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	I	813;813;813;211;165;155	ENSP00000339381:L813I;ENSP00000338509:L813I;ENSP00000372238:L813I;ENSP00000304459:L211I;ENSP00000342133:L165I;ENSP00000438888:L155I	ENSP00000304459:L211I	L	+	1	0	RGS12	3388447	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	0.838000	0.27572	1.026000	0.39733	-0.192000	0.12808	CTC	RGS12	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000159788		0.577	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0.00	38	0	C	NM_002926		3418649	+1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A
RNF43	54894	genome.wustl.edu	37	17	56434566	56434566	+	Intron	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:56434566T>C	ENST00000584437.1	-	8	4264				RNF43_ENST00000583753.1_Intron|RNF43_ENST00000581868.1_Silent_p.K730K|RNF43_ENST00000407977.2_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43						negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tccaagtgcctttctgatgcc	0.582																																																	0																																										SO:0001627	intron_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2308+262A>G	17.37:g.56434566T>C			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K730	ENST00000584437.1	37	c.2190	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.582	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0.00	30	0	T	NM_017763		56434566	-1	tier1	-	no_errors	ENST00000581868	ensembl	human	putative	74_37	silent	30.00	14	6	SNP	0.002	C
RPH3A	22895	genome.wustl.edu	37	12	113334573	113334573	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:113334573G>A	ENST00000389385.4	+	22	2570	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	RPH3A_ENST00000420983.2_Silent_p.V691V|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.V691V|RPH3A_ENST00000543106.2_Silent_p.V691V|RPH3A_ENST00000551052.1_Silent_p.V687V|RPH3A_ENST00000548866.1_Silent_p.V642V|RPH3A_ENST00000447659.2_Silent_p.V642V	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	691					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGAACCACGTGTCAAGTGATT	0.542																																																	0													95.0	84.0	88.0					12																	113334573		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.2073G>A	12.37:g.113334573G>A			B7Z3C3|Q96AE0	Silent	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.V691	ENST00000389385.4	37	c.2073	CCDS44979.1	12																																																																																			RPH3A	-	NULL	ENSG00000089169		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0.00	31	0	G	NM_014954		113334573	+1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	silent	35.29	11	6	SNP	0.679	A
SAFB	6294	genome.wustl.edu	37	19	5661536	5661536	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:5661536C>T	ENST00000292123.5	+	15	1977	c.1870C>T	c.(1870-1872)Cgt>Tgt	p.R624C	SAFB_ENST00000433404.1_Missense_Mutation_p.R454C|SAFB_ENST00000592224.1_Missense_Mutation_p.R623C|SAFB_ENST00000588852.1_Missense_Mutation_p.R624C|SAFB_ENST00000454510.1_Missense_Mutation_p.R555C|SAFB_ENST00000538656.1_Missense_Mutation_p.R466C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	624	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGCAGGGTGCGTGAACGCAG	0.632																																					Colon(88;338 1345 6184 8214 20897)												0													40.0	45.0	44.0					19																	5661536		2202	4296	6498	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1870C>T	19.37:g.5661536C>T	ENSP00000292123:p.Arg624Cys		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R624C	ENST00000292123.5	37	c.1870	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917105	0.33815	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.17528	2.3;2.5;2.27;2.33	5.27	4.22	0.49857	.	0.123406	0.33959	N	0.004389	T	0.15565	0.0375	L	0.52206	1.635	0.80722	D	1	B;B;B;B;B;B;B	0.31640	0.225;0.225;0.333;0.225;0.225;0.225;0.225	B;B;B;B;B;B;B	0.25506	0.028;0.028;0.061;0.028;0.028;0.028;0.028	T	0.02966	-1.1088	10	0.62326	D	0.03	-15.7513	11.1306	0.48345	0.1293:0.7994:0.0:0.0713	.	423;466;555;623;624;624;623	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	C	555;519;454;624;466	ENSP00000415895:R555C;ENSP00000404545:R454C;ENSP00000292123:R624C;ENSP00000438880:R466C	ENSP00000292123:R624C	R	+	1	0	SAFB	5612536	0.822000	0.29219	0.974000	0.42286	0.261000	0.26267	1.438000	0.35002	2.625000	0.88918	0.455000	0.32223	CGT	SAFB	-	NULL	ENSG00000160633		0.632	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0.00	35	0	C			5661536	+1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.778	T
ZBED9	114821	genome.wustl.edu	37	6	28547054	28547054	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:28547054T>A	ENST00000452236.2	-	2	1180	c.563A>T	c.(562-564)gAt>gTt	p.D188V	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTCACCATTATCTTGAAGTGG	0.408																																																	0													163.0	172.0	169.0					6																	28547054		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.563A>T	6.37:g.28547054T>A	ENSP00000395259:p.Asp188Val			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.D188V	ENST00000452236.2	37	c.563	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153614	0.38021	.	.	ENSG00000232040	ENST00000452236	T	0.01455	4.87	3.66	2.47	0.30058	.	.	.	.	.	T	0.00552	0.0018	N	0.19112	0.55	0.43936	D	0.996598	P	0.42039	0.769	B	0.37346	0.247	T	0.67929	-0.5543	9	0.87932	D	0	.	5.9878	0.19444	0.0:0.1257:0.0:0.8743	.	188	Q6R2W3	SCND3_HUMAN	V	188	ENSP00000395259:D188V	ENSP00000395259:D188V	D	-	2	0	SCAND3	28655033	0.934000	0.31675	1.000000	0.80357	0.949000	0.60115	0.989000	0.29629	0.415000	0.25817	0.374000	0.22700	GAT	SCAND3	-	NULL	ENSG00000232040		0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0.00	81	0	T			28547054	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	A
SCRN3	79634	genome.wustl.edu	37	2	175263171	175263171	+	Splice_Site	SNP	G	G	T	rs147792046	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:175263171G>T	ENST00000272732.6	+	2	241		c.e2+1		SCRN3_ENST00000409673.3_Splice_Site|CIR1_ENST00000342016.3_5'Flank|CIR1_ENST00000362053.5_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3								dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ACGTCTTAAGGTAGGTGAAAT	0.299																																																	0								G	,	1,4405		0,1,2202	126.0	133.0	131.0		,	5.0	1.0	2	dbSNP_134	131	6,8594	3.7+/-12.6	0,6,4294	yes	splice-5,splice-5	SCRN3	NM_001193528.1,NM_024583.4	,	0,7,6496	TT,TG,GG		0.0698,0.0227,0.0538	,	,	175263171	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	0			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.159+1G>T	2.37:g.175263171G>T			B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Splice_Site	SNP	-	e1+1	ENST00000272732.6	37	c.159+1	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637680	0.67130	2.27E-4	6.98E-4	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000424069;ENST00000427038;ENST00000548031	.	.	.	5.91	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9269	0.35646	0.0747:0.0:0.7749:0.1504	.	.	.	.	.	-1	.	.	.	+	.	.	SCRN3	174971417	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	4.238000	0.58688	1.496000	0.48567	0.643000	0.83706	.	SCRN3	-	-	ENSG00000144306		0.299	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	-	0.00	60	0	G	NM_024583	Intron	175263171	+1	tier1	rs147792046	no_errors	ENST00000272732	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47165570	47165570	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:47165570G>T	ENST00000409792.3	-	3	598	c.556C>A	c.(556-558)Ccg>Acg	p.P186T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	186	Pro-rich.				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)			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)		GATGAGGGCGGTGAGTCTACA	0.552			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													572.0	523.0	537.0					3																	47165570		692	1591	2283	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.556C>A	3.37:g.47165570G>T	ENSP00000386759:p.Pro186Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.P186T	ENST00000409792.3	37	c.556	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390864	0.25118	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90444	-2.67;1.18	5.03	5.03	0.67393	.	.	.	.	.	D	0.82453	0.5040	N	0.14661	0.345	0.32924	D	0.516189	B;B	0.30824	0.296;0.296	B;B	0.26202	0.067;0.067	D	0.85683	0.1302	9	0.72032	D	0.01	.	13.1809	0.59653	0.0:0.0:0.8405:0.1595	.	186;186	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	186;186;186;142	ENSP00000386759:P186T;ENSP00000416401:P142T	ENSP00000386759:P186T	P	-	1	0	SETD2	47140574	0.996000	0.38824	0.998000	0.56505	0.946000	0.59487	2.650000	0.46665	2.621000	0.88768	0.563000	0.77884	CCG	SETD2	-	NULL	ENSG00000181555		0.552	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0.00	78	0	G	NM_014159		47165570	-1			no_errors	ENST00000409792	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.962	T
SMC5	23137	genome.wustl.edu	37	9	72962880	72962880	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr9:72962880A>G	ENST00000361138.5	+	22	2873	c.2815A>G	c.(2815-2817)Att>Gtt	p.I939V	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	939					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGTAGAAAAAATTAATGAAAA	0.284																																																	0													32.0	36.0	34.0					9																	72962880		2180	4275	6455	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2815A>G	9.37:g.72962880A>G	ENSP00000354957:p.Ile939Val		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.I939V	ENST00000361138.5	37	c.2815	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487210	0.63962	.	.	ENSG00000198887	ENST00000361138	T	0.80566	-1.39	5.9	5.9	0.94986	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	L	0.52011	1.625	0.80722	D	1	P	0.47841	0.901	P	0.53224	0.721	T	0.80301	-0.1440	10	0.24483	T	0.36	-21.5235	16.3291	0.83001	1.0:0.0:0.0:0.0	.	939	Q8IY18	SMC5_HUMAN	V	939	ENSP00000354957:I939V	ENSP00000354957:I939V	I	+	1	0	SMC5	72152700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.919000	0.70005	2.257000	0.74773	0.528000	0.53228	ATT	SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.284	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0.00	56	0	A	NM_015110		72962880	+1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	G
SMPDL3A	10924	genome.wustl.edu	37	6	123116827	123116827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:123116827delT	ENST00000368440.4	+	2	295	c.118delT	c.(118-120)tttfs	p.F40fs	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	40					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AACAGGACAGTTTTGGCATGT	0.378																																																	0													113.0	99.0	104.0					6																	123116827		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.118delT	6.37:g.123116827delT	ENSP00000357425:p.Phe40fs		B7Z729|Q8WV13	Frame_Shift_Del	DEL	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.W41fs	ENST00000368440.4	37	c.118	CCDS5128.1	6																																																																																			SMPDL3A	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.378	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1		0.00	66	0	T	NM_006714		123116827	+1	tier1		no_errors	ENST00000368440	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-
SNX6	58533	genome.wustl.edu	37	14	35073350	35073350	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:35073350A>T	ENST00000355110.5	-	6	554	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	SNX6_ENST00000362031.4_Intron|SNX6_ENST00000396534.3_Intron|SNX6_ENST00000396526.3_Intron			Q9UNH7	SNX6_HUMAN	sorting nexin 6	0					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CCAGCAAACCAGCAGGACCAA	0.393																																																	0																																										SO:0001583	missense	0			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000355110.5:c.47T>A	14.37:g.35073350A>T	ENSP00000347230:p.Leu16Gln		C0H5W9|Q9Y449	Missense_Mutation	SNP	pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox	p.L16Q	ENST00000355110.5	37	c.47		14	.	.	.	.	.	.	.	.	.	.	A	16.67	3.188489	0.57909	.	.	ENSG00000129515	ENST00000355110	T	0.25579	1.79	5.49	5.49	0.81192	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.48341	D	0.999632	D	0.65815	0.995	D	0.72982	0.979	T	0.53180	-0.8475	8	0.59425	D	0.04	.	14.468	0.67497	1.0:0.0:0.0:0.0	.	16	B4DJS7	.	Q	16	ENSP00000347230:L16Q	ENSP00000347230:L16Q	L	-	2	0	SNX6	34143101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.028000	0.57246	2.212000	0.71576	0.454000	0.30748	CTG	SNX6	-	NULL	ENSG00000129515		0.393	SNX6-201	KNOWN	basic	protein_coding	SNX6	HGNC	protein_coding		-	0.00	27	0	A			35073350	-1	tier1	-	no_errors	ENST00000355110	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T
SPPL2B	56928	genome.wustl.edu	37	19	2334616	2334616	+	RNA	SNP	G	G	T	rs377325090		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:2334616G>T	ENST00000452401.2	+	0	162							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGAGTACGGCATGGTGCA	0.662																																																	0													28.0	33.0	32.0					19																	2334616		2108	4212	6320			0				CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2334616G>T			D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	-	NULL	ENST00000452401.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599391	0.66332	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	M	0.86953	2.85	0.47778	D	0.999518	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.86499	0.1802	8	0.62326	D	0.03	-37.9155	15.3039	0.73976	0.0:0.0:1.0:0.0	.	28;28;28	A6NFV1;Q8TCT7;C9JFE6	.;PSL1_HUMAN;.	C	28	.	ENSP00000371624:G28C	G	+	1	0	AC004410.1	2285616	1.000000	0.71417	0.995000	0.50966	0.407000	0.30961	7.367000	0.79558	1.949000	0.56562	0.555000	0.69702	GGC	SPPL2B	-	-	ENSG00000005206		0.662	SPPL2B-202	KNOWN	basic	processed_transcript	SPPL2B	HGNC	processed_transcript		-	0.00	120	0	G	NM_020172		2334616	+1	tier1	-	no_errors	ENST00000382189	ensembl	human	known	74_37	rna	27.14	51	19	SNP	1.000	T
ST8SIA4	7903	genome.wustl.edu	37	5	100222259	100222259	+	Silent	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:100222259C>T	ENST00000231461.5	-	3	601	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ST8SIA4_ENST00000451528.2_Silent_p.V97V|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	97					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGCTCTTGACCACTGACACAT	0.413																																																	0													127.0	115.0	119.0					5																	100222259		2203	4300	6503	SO:0001819	synonymous_variant	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.291G>A	5.37:g.100222259C>T			A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V97	ENST00000231461.5	37	c.291	CCDS4091.1	5																																																																																			ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000113532		0.413	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	-	0.00	21	0	C	NM_005668		100222259	-1	tier1	-	no_errors	ENST00000231461	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.998	T
TADA1	117143	genome.wustl.edu	37	1	166833122	166833123	+	Frame_Shift_Del	DEL	GC	GC	-	rs373239463		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:166833122_166833123delGC	ENST00000367874.4	-	4	361_362	c.268_269delGC	c.(268-270)gcafs	p.A91fs	TADA1_ENST00000467021.1_5'Flank	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	91					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGGTTTTGCTGCGGAACCCCCT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.268_269delGC	1.37:g.166833122_166833123delGC	ENSP00000356848:p.Ala91fs		A8K4J9	Frame_Shift_Del	DEL	superfamily_Histone-fold	p.A90fs	ENST00000367874.4	37	c.269_268	CCDS1255.1	1																																																																																			TADA1	-	NULL	ENSG00000152382		0.381	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1		0.00	35	0	GC	NM_053053		166833123	-1	tier1		no_errors	ENST00000367874	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000:1.000	-
TAS2R14	50840	genome.wustl.edu	37	12	11230333	11230333	+	Intron	SNP	T	T	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:11230333T>A	ENST00000381852.4	-	2	152				PRR4_ENST00000536668.1_Intron|TAS2R64P_ENST00000534866.1_RNA			Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GTGTATTGCATTCCTCAATTT	0.368																																																	0																																										SO:0001627	intron_variant	0			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000381852.4:c.1511-30546A>T	12.37:g.11230333T>A			Q645X3	RNA	SNP	-	NULL	ENST00000381852.4	37	NULL		12																																																																																			TAS2R64P	-	-	ENSG00000256274		0.368	TAS2R14-002	KNOWN	basic	processed_transcript	TAS2R64P	HGNC	protein_coding	OTTHUMT00000402305.1	-	0.00	96	0	T	NM_023922		11230333	-1	tier1	-	no_errors	ENST00000534866	ensembl	human	known	74_37	rna	11.11	72	9	SNP	0.000	A
TECPR1	25851	genome.wustl.edu	37	7	97847085	97847085	+	Silent	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:97847085G>A	ENST00000447648.2	-	25	3602	c.3303C>T	c.(3301-3303)agC>agT	p.S1101S	TECPR1_ENST00000379795.3_Silent_p.S1103S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1101					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCGGCTCAGGCTGTGGCTGC	0.687																																																	0													12.0	16.0	15.0					7																	97847085		2054	4037	6091	SO:0001819	synonymous_variant	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3303C>T	7.37:g.97847085G>A			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S1103	ENST00000447648.2	37	c.3309	CCDS47648.1	7																																																																																			TECPR1	-	pfam_Beta-propeller_rpt_TECPR,smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.687	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0.00	105	0	G	NM_015395		97847085	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.997	A
TECPR1	25851	genome.wustl.edu	37	7	97870204	97870204	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:97870204C>A	ENST00000447648.2	-	8	1191	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L	TECPR1_ENST00000379795.3_Missense_Mutation_p.V298L|TECPR1_ENST00000542604.1_Missense_Mutation_p.V228L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	298					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGACTCCCACCGAGATGTGC	0.607																																																	0													33.0	38.0	36.0					7																	97870204		2201	4295	6496	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.892G>T	7.37:g.97870204C>A	ENSP00000404923:p.Val298Leu		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.V298L	ENST00000447648.2	37	c.892	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480628	0.44044	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.36699	1.33;1.31;1.24	5.08	4.2	0.49525	.	0.251685	0.39210	N	0.001427	T	0.36608	0.0973	L	0.52759	1.655	0.35553	D	0.804068	P;P	0.39601	0.68;0.54	B;B	0.41036	0.346;0.242	T	0.53099	-0.8486	10	0.66056	D	0.02	-1.8572	12.6616	0.56817	0.0:0.92:0.0:0.08	.	228;298	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	298;298;228	ENSP00000404923:V298L;ENSP00000369121:V298L;ENSP00000441121:V228L	ENSP00000369121:V298L	V	-	1	0	TECPR1	97708140	1.000000	0.71417	0.107000	0.21349	0.206000	0.24218	5.771000	0.68881	1.155000	0.42497	0.505000	0.49811	GTG	TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.607	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1		0.00	18	0	C	NM_015395		97870204	-1			no_errors	ENST00000379795	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.994	A
TG	7038	genome.wustl.edu	37	8	133899059	133899059	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:133899059G>A	ENST00000220616.4	+	9	1482	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	TG_ENST00000377869.1_Missense_Mutation_p.G481D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	481					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAATGTTGGCCAGTTTAAC	0.473																																																	0													78.0	82.0	81.0					8																	133899059		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1442G>A	8.37:g.133899059G>A	ENSP00000220616:p.Gly481Asp		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.G481D	ENST00000220616.4	37	c.1442	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972891	0.53614	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66280	-0.2;-0.19	5.67	2.82	0.32997	.	0.662394	0.14581	N	0.310843	T	0.71143	0.3305	M	0.69823	2.125	0.09310	N	1	D	0.59767	0.986	P	0.56343	0.796	T	0.61272	-0.7096	10	0.72032	D	0.01	.	9.7803	0.40645	0.0:0.2427:0.4949:0.2625	.	481	P01266	THYG_HUMAN	D	481	ENSP00000367100:G481D;ENSP00000220616:G481D	ENSP00000220616:G481D	G	+	2	0	TG	133968241	1.000000	0.71417	0.590000	0.28732	0.987000	0.75469	2.270000	0.43355	0.292000	0.22492	0.557000	0.71058	GGC	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0.00	53	0	G	NM_003235		133899059	+1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.005	A
THRA	7067	genome.wustl.edu	37	17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:38245543G>A	ENST00000264637.4	+	9	1647	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000450525.2_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCAACCACCGCAAACACAAC	0.597																																																	0													257.0	196.0	217.0					17																	38245543		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1067G>A	17.37:g.38245543G>A	ENSP00000264637:p.Arg356His		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R356H	ENST00000264637.4	37	c.1067	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648442	0.87958	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	L	0.56396	1.775	0.80722	D	1	D;D;D	0.65815	0.991;0.971;0.995	P;P;P	0.58620	0.806;0.842;0.659	D	0.96930	0.9680	10	0.52906	T	0.07	.	16.1444	0.81555	0.0:0.0:1.0:0.0	.	356;356;356	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	356	ENSP00000377679:R356H;ENSP00000264637:R356H;ENSP00000395641:R356H;ENSP00000443972:R356H	ENSP00000264637:R356H	R	+	2	0	THRA	35499069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.520000	0.81821	2.319000	0.78375	0.424000	0.28305	CGC	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000126351		0.597	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0.00	33	0	G			38245543	+1			no_errors	ENST00000264637	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A
TLR2	7097	genome.wustl.edu	37	4	154625228	154625228	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:154625228A>G	ENST00000260010.6	+	1	2577	c.1169A>G	c.(1168-1170)cAa>cGa	p.Q390R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	390					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.Q390R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CCCTCTCTACAAACTTTAATT	0.343																																																	1	Substitution - Missense(1)	lung(1)											38.0	40.0	39.0					4																	154625228		2202	4299	6501	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1169A>G	4.37:g.154625228A>G	ENSP00000260010:p.Gln390Arg		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q390R	ENST00000260010.6	37	c.1169	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	A	6.600	0.479028	0.12581	.	.	ENSG00000137462	ENST00000260010	T	0.55588	0.51	6.06	3.6	0.41247	.	0.504675	0.21875	N	0.067837	T	0.52273	0.1724	M	0.70903	2.155	0.20074	N	0.999938	B	0.14012	0.009	B	0.24155	0.051	T	0.52815	-0.8525	10	0.62326	D	0.03	.	10.9909	0.47549	0.872:0.0:0.128:0.0	.	390	O60603	TLR2_HUMAN	R	390	ENSP00000260010:Q390R	ENSP00000260010:Q390R	Q	+	2	0	TLR2	154844678	0.250000	0.23951	0.007000	0.13788	0.540000	0.34992	3.465000	0.53064	1.114000	0.41781	-0.264000	0.10439	CAA	TLR2	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000137462		0.343	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1		0.00	41	0	A			154625228	+1			no_errors	ENST00000260010	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.311	G
TLL1	7092	genome.wustl.edu	37	4	166924650	166924650	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:166924650G>T	ENST00000061240.2	+	6	1387	c.740G>T	c.(739-741)gGc>gTc	p.G247V	TLL1_ENST00000513213.1_Missense_Mutation_p.G247V|TLL1_ENST00000507499.1_Missense_Mutation_p.G247V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	247	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATGTGATAGGCTTTTGGCAT	0.433																																																	0													187.0	166.0	173.0					4																	166924650		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.740G>T	4.37:g.166924650G>T	ENSP00000061240:p.Gly247Val		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G247V	ENST00000061240.2	37	c.740	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469339	0.63625	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	D;D;D	0.96365	-3.99;-3.99;-3.99	5.35	5.35	0.76521	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.99208	0.9725	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.67548	0.952;0.898	D	0.98435	1.0584	10	0.87932	D	0	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	247;247	E9PD25;O43897	.;TLL1_HUMAN	V	247	ENSP00000061240:G247V;ENSP00000426082:G247V;ENSP00000422937:G247V	ENSP00000061240:G247V	G	+	2	0	TLL1	167144100	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	9.813000	0.99286	2.653000	0.90120	0.557000	0.71058	GGC	TLL1	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A	ENSG00000038295		0.433	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0.00	82	0	G			166924650	+1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	T
TNKS	8658	genome.wustl.edu	37	8	9592385	9592385	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:9592385A>G	ENST00000310430.6	+	16	2350	c.2324A>G	c.(2323-2325)gAt>gGt	p.D775G	TNKS_ENST00000518281.1_Missense_Mutation_p.D538G	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	775					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CATGGAGCAGATCCAACTAAA	0.383																																																	0													75.0	75.0	75.0					8																	9592385		2203	4300	6503	SO:0001583	missense	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2324A>G	8.37:g.9592385A>G	ENSP00000311579:p.Asp775Gly		O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.D775G	ENST00000310430.6	37	c.2324	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632846	0.87660	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.72835	-0.69;-0.69	5.7	5.7	0.88788	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85951	0.1464	10	0.87932	D	0	.	15.971	0.80019	1.0:0.0:0.0:0.0	.	775	O95271	TNKS1_HUMAN	G	775;538	ENSP00000311579:D775G;ENSP00000429890:D538G	ENSP00000311579:D775G	D	+	2	0	TNKS	9629795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.175000	0.68902	0.533000	0.62120	GAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000173273		0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	-	0.00	57	0	A	NM_003747		9592385	+1	tier1	-	no_errors	ENST00000310430	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	G
TOMM7	54543	genome.wustl.edu	37	7	22857031	22857031	+	Intron	DEL	T	T	-			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:22857031delT	ENST00000358435.4	-	2	224				TOMM7_ENST00000372879.4_Splice_Site_p.T97fs|TOMM7_ENST00000463284.1_Intron|TOMM7_ENST00000405021.3_Intron	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AATTATTTACttttttttttt	0.378																																																	0																																										SO:0001627	intron_variant	0			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.152+587A>-	7.37:g.22857031delT			O95939	Frame_Shift_Del	DEL	pfam_Tom7	p.T97fs	ENST00000358435.4	37	c.289	CCDS5376.1	7																																																																																			TOMM7	-	NULL	ENSG00000196683		0.378	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1		0.00	21	0	T	NM_019059		22857031	-1	tier1		no_errors	ENST00000372879	ensembl	human	putative	74_37	frame_shift_del	12.00	22	3	DEL	0.100	-
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	332	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	34.68	194	103	SNP	0.830	A
TRDN	10345	genome.wustl.edu	37	6	123576225	123576225	+	Splice_Site	SNP	C	C	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:123576225C>A	ENST00000398178.3	-	37	1973		c.e37+1		TRDN_ENST00000334268.4_Splice_Site	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCAAGATTACCTTTTGTCAC	0.224																																																	0													39.0	37.0	38.0					6																	123576225		1519	3399	4918	SO:0001630	splice_region_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1951+1G>T	6.37:g.123576225C>A			A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	-	e37+1	ENST00000398178.3	37	c.1951+1	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018662	0.54576	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6074	0.56531	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRDN	123617924	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	1.234000	0.32660	2.402000	0.81655	0.655000	0.94253	.	TRDN	-	-	ENSG00000186439		0.224	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0.00	65	0	C		Intron	123576225	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	splice_site	14.71	29	5	SNP	1.000	A
TTC8	123016	genome.wustl.edu	37	14	89291075	89291075	+	Silent	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:89291075G>T	ENST00000345383.5	+	1	108	c.24G>T	c.(22-24)ctG>ctT	p.L8L	TTC8_ENST00000346301.4_Silent_p.L8L|TTC8_ENST00000338104.6_Silent_p.L8L|TTC8_ENST00000380656.2_Silent_p.L8L|TTC8_ENST00000354441.6_Silent_p.L8L|TTC8_ENST00000536576.1_5'UTR	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	8					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGAGCCGCTGCTCCTGGCCT	0.642																																																	0													16.0	17.0	16.0					14																	89291075		2202	4299	6501	SO:0001819	synonymous_variant	0			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.24G>T	14.37:g.89291075G>T			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L8	ENST00000345383.5	37	c.24	CCDS9885.1	14																																																																																			TTC8	-	NULL	ENSG00000165533		0.642	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	-	0.00	10	0	G	NM_144596		89291075	+1	tier1	-	no_errors	ENST00000338104	ensembl	human	known	74_37	silent	77.78	2	7	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179554284	179554284	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:179554284T>C	ENST00000591111.1	-	121	31158	c.30934A>G	c.(30934-30936)Ata>Gta	p.I10312V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I9385V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I10629V			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATGGTTATTTTTTCTTCT	0.358																																																	0													264.0	262.0	263.0					2																	179554284		1879	4119	5998	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.30934A>G	2.37:g.179554284T>C	ENSP00000465570:p.Ile10312Val		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_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_dom,pfscan_Ig-like_dom	p.I9385V	ENST00000591111.1	37	c.28153		2	.	.	.	.	.	.	.	.	.	.	T	2.202	-0.382852	0.04966	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.61392	0.11;0.11	5.13	-1.26	0.09376	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.30823	0.0777	N	0.05078	-0.115	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03993	-1.0986	9	0.87932	D	0	.	6.5288	0.22316	0.1452:0.4868:0.0:0.3679	.	10312;10312	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	V	9385;507	ENSP00000343764:I9385V;ENSP00000401501:I507V	ENSP00000343764:I9385V	I	-	1	0	TTN	179262529	0.236000	0.23804	0.856000	0.33681	0.998000	0.95712	-0.336000	0.07863	-0.149000	0.11215	0.533000	0.62120	ATA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	35	0	T	NM_133378		179554284	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.902	C
VPS41	27072	genome.wustl.edu	37	7	38766586	38766586	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:38766586C>G	ENST00000310301.4	-	28	2461	c.2407G>C	c.(2407-2409)Gca>Cca	p.A803P	VPS41_ENST00000395969.2_Missense_Mutation_p.A778P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	803					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GGCTTAGCTGCATCTGGCGAG	0.507																																																	0													100.0	82.0	88.0					7																	38766586		2203	4300	6503	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.2407G>C	7.37:g.38766586C>G	ENSP00000309457:p.Ala803Pro		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.A803P	ENST00000310301.4	37	c.2407	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453414	0.43531	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.68181	-0.31;-0.31	5.32	5.32	0.75619	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.147450	0.64402	D	0.000010	T	0.53029	0.1771	N	0.17474	0.49	0.50039	D	0.999848	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.45071	-0.9286	10	0.28530	T	0.3	-5.5398	18.5966	0.91231	0.0:1.0:0.0:0.0	.	803;778;803	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	P	803;778	ENSP00000309457:A803P;ENSP00000379297:A778P	ENSP00000309457:A803P	A	-	1	0	VPS41	38733111	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.399000	0.66314	2.481000	0.83766	0.561000	0.74099	GCA	VPS41	-	pirsf_VPS41,pfscan_Znf_RING	ENSG00000006715		0.507	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3		0.00	23	0	C			38766586	-1			no_errors	ENST00000310301	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	G
XIRP2	129446	genome.wustl.edu	37	2	168097247	168097247	+	Splice_Site	SNP	G	G	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:168097247G>T	ENST00000409728.1	+	8	1230		c.e8+1		XIRP2_ENST00000409195.1_Splice_Site|XIRP2_ENST00000295237.9_Splice_Site|XIRP2_ENST00000409273.1_Splice_Site|XIRP2_ENST00000409756.2_Splice_Site|XIRP2_ENST00000420519.1_Splice_Site|XIRP2_ENST00000409043.1_Splice_Site|XIRP2_ENST00000409605.1_Splice_Site	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.?(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAGAAACTGGTAAGAGTCTG	0.373																																																	2	Unknown(2)	lung(2)											110.0	105.0	107.0					2																	168097247		1855	4084	5939	SO:0001630	splice_region_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1141+1G>T	2.37:g.168097247G>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Splice_Site	SNP	-	e6+1	ENST00000409728.1	37	c.1042+1	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393847	0.62066	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2687	0.87095	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XIRP2	167805493	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	5.721000	0.68477	2.756000	0.94617	0.655000	0.94253	.	XIRP2	-	-	ENSG00000163092		0.373	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0.00	87	0	G	NM_152381	Intron	168097247	+1			no_errors	ENST00000295237	ensembl	human	known	74_37	splice_site	5.66	50	3	SNP	1.000	T
ZNF174	7727	genome.wustl.edu	37	16	3452110	3452111	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:3452110_3452111insA	ENST00000268655.4	+	1	691_692	c.106_107insA	c.(106-108)caafs	p.Q36fs	ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000572544.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000344823.5_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000575752.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000304926.3_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCTCCTCTGCAAAAAAACTGC	0.5																																																	0																																										SO:0001589	frameshift_variant	0			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.113dupA	16.37:g.3452117_3452117dupA	ENSP00000268655:p.Gln36fs		Q53Y68|Q9BQ34	Frame_Shift_Ins	INS	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N38fs	ENST00000268655.4	37	c.106_107	CCDS10504.1	16																																																																																			ZNF174	-	superfamily_Retrov_capsid_C	ENSG00000103343		0.500	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1		0.00	36	0	-	NM_003450		3452111	+1	tier1		no_errors	ENST00000268655	ensembl	human	known	74_37	frame_shift_ins	14.29	24	4	INS	0.037:0.000	A
ZNF23	7571	genome.wustl.edu	37	16	71483126	71483126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:71483126delT	ENST00000393539.2	-	6	1615	c.802delA	c.(802-804)agtfs	p.S268fs	ZNF23_ENST00000428724.2_Frame_Shift_Del_p.S210fs|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Frame_Shift_Del_p.S268fs|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Frame_Shift_Del_p.S268fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Frame_Shift_Del_p.S210fs	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	268					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)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGATGCCTACTTAGGCTTCCA	0.453																																																	0													113.0	104.0	107.0					16																	71483126		2198	4300	6498	SO:0001589	frameshift_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.802delA	16.37:g.71483126delT	ENSP00000377171:p.Ser268fs		Q8NDP5|Q96IT3|Q9UG42	Frame_Shift_Del	DEL	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S268fs	ENST00000393539.2	37	c.802	CCDS10900.1	16																																																																																			ZNF23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.453	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23		0.00	76	0	T	NM_145911		71483126	-1	tier1		no_errors	ENST00000357254	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.000	-
ZNF570	148268	genome.wustl.edu	37	19	37975902	37975902	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:37975902C>T	ENST00000330173.1	+	5	1907	c.1378C>T	c.(1378-1380)Cat>Tat	p.H460Y	CTD-2086O20.3_ENST00000591976.1_lincRNA|ZNF570_ENST00000586475.1_Missense_Mutation_p.H516Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.H257Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTACTCAACATCAGCGAGT	0.423																																																	0													117.0	113.0	115.0					19																	37975902		2203	4300	6503	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1378C>T	19.37:g.37975902C>T	ENSP00000331540:p.His460Tyr		A1L472|B4DMP1	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.H460Y	ENST00000330173.1	37	c.1378	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799606	0.70567	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	D;D	0.86769	-2.17;-2.17	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.336984	0.21783	N	0.069166	D	0.95360	0.8494	H	0.95780	3.72	0.49051	D	0.999744	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.96728	0.9537	10	0.87932	D	0	.	15.7256	0.77756	0.0:1.0:0.0:0.0	.	257;460	B4DMP1;Q96NI8	.;ZN570_HUMAN	Y	460;257	ENSP00000331540:H460Y;ENSP00000373453:H257Y	ENSP00000331540:H460Y	H	+	1	0	ZNF570	42667742	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.311000	0.78958	2.299000	0.77371	0.563000	0.77884	CAT	ZNF570	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0.00	44	0	C	NM_144694		37975902	+1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	T
ZNF646	9726	genome.wustl.edu	37	16	31091561	31091561	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:31091561C>T	ENST00000394979.2	+	1	4339	c.3916C>T	c.(3916-3918)Cgg>Tgg	p.R1306W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1306W			O15015	ZN646_HUMAN	zinc finger protein 646	1306					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						GCAGTGCGGGCGGACCTATCG	0.701																																																	0													26.0	26.0	26.0					16																	31091561		2193	4296	6489	SO:0001583	missense	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.3916C>T	16.37:g.31091561C>T	ENSP00000378429:p.Arg1306Trp		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1306W	ENST00000394979.2	37	c.3916		16	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777902	0.31502	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.55588	0.51;0.51	5.13	3.02	0.34903	.	.	.	.	.	T	0.71204	0.3312	M	0.80028	2.48	0.40551	D	0.981111	D	0.89917	1.0	D	0.85130	0.997	T	0.76386	-0.2978	9	0.87932	D	0	-8.9831	11.7851	0.52037	0.1433:0.7309:0.1258:0.0	.	1306	O15015-2	.	W	1306;1306;178	ENSP00000300850:R1306W;ENSP00000378429:R1306W	ENSP00000300850:R1306W	R	+	1	2	ZNF646	30999062	0.008000	0.16893	0.875000	0.34327	0.016000	0.09150	0.699000	0.25586	1.373000	0.46208	-0.305000	0.09177	CGG	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.701	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2		0.00	16	0	C	NM_014699		31091561	+1			no_errors	ENST00000300850	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.846	T
