#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A1CF	29974	genome.wustl.edu	37	10	52587953	52587953	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:52587953C>A	ENST00000373993.1	-	5	751	c.707G>T	c.(706-708)aGa>aTa	p.R236I	A1CF_ENST00000373997.3_Missense_Mutation_p.R236I|A1CF_ENST00000395489.2_Missense_Mutation_p.R229I|A1CF_ENST00000373995.3_Missense_Mutation_p.R244I|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.R236I|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.2_Missense_Mutation_p.R236I			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	236	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CATAAGATTTCTTACATATAG	0.353																																						dbGAP											0													134.0	131.0	132.0					10																	52587953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.707G>T	10.37:g.52587953C>A	ENSP00000363105:p.Arg236Ile		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R236I	ENST00000373993.1	37	c.707	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996841	0.93167	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.48	5.48	0.80851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.997	D;D;D;D	0.85130	0.975;0.986;0.997;0.988	D	0.88419	0.3027	10	0.87932	D	0	.	16.8465	0.85982	0.0:1.0:0.0:0.0	.	229;236;236;244	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	I	236;236;236;244;236;219;229	ENSP00000363113:R236I;ENSP00000363105:R236I;ENSP00000363109:R236I;ENSP00000363107:R244I;ENSP00000282641:R236I;ENSP00000378868:R229I	ENSP00000282641:R236I	R	-	2	0	A1CF	52257959	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.487000	0.81328	2.567000	0.86603	0.563000	0.77884	AGA	A1CF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000148584		0.353	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	181	0.55	1	C	NM_014576		52587953	52587953	-1	no_errors	ENST00000282641	ensembl	human	known	69_37n	missense	58	56.72	76	SNP	1.000	A
ABCA13	154664	genome.wustl.edu	37	7	48313842	48313842	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:48313842C>T	ENST00000435803.1	+	17	4603	c.4579C>T	c.(4579-4581)Cta>Tta	p.L1527L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1527					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						TGAATTAATTCTAAGACCAAT	0.318																																						dbGAP											0													33.0	34.0	33.0					7																	48313842		1801	4050	5851	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4579C>T	7.37:g.48313842C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1527	ENST00000435803.1	37	c.4579	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	35	0.00	0	C	NM_152701		48313842	48313842	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	silent	25	34.21	13	SNP	0.068	T
ABCA4	24	genome.wustl.edu	37	1	94463492	94463492	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:94463492G>C	ENST00000370225.3	-	48	6740	c.6654C>G	c.(6652-6654)atC>atG	p.I2218M	ABCA4_ENST00000535881.1_Missense_Mutation_p.I337M|ABCA4_ENST00000536513.1_Missense_Mutation_p.I488M	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2218					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAGCTGGAAGATCCTCGCCA	0.597																																						dbGAP											0													144.0	103.0	117.0					1																	94463492		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6654C>G	1.37:g.94463492G>C	ENSP00000359245:p.Ile2218Met		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.I2218M	ENST00000370225.3	37	c.6654	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144527	0.37825	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.88046	-2.33;-2.33;-2.33	5.36	5.36	0.76844	.	0.773374	0.11633	N	0.544657	D	0.86201	0.5876	L	0.41906	1.305	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.85069	0.0939	10	0.87932	D	0	.	6.3569	0.21406	0.0877:0.0:0.5951:0.3172	.	2218	P78363	ABCA4_HUMAN	M	1010;2218;488;337	ENSP00000359245:I2218M;ENSP00000439707:I488M;ENSP00000443203:I337M	ENSP00000359245:I2218M	I	-	3	3	ABCA4	94236080	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.066000	0.30604	2.512000	0.84698	0.462000	0.41574	ATC	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.597	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	149	0.00	0	G	NM_000350		94463492	94463492	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	25	65.75	48	SNP	1.000	C
ABCA4	24	genome.wustl.edu	37	1	94526200	94526200	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:94526200T>A	ENST00000370225.3	-	14	2139	c.2053A>T	c.(2053-2055)Acc>Tcc	p.T685S	ABCA4_ENST00000535735.1_Missense_Mutation_p.T685S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	685					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTTTCAAGGTCTCCTTCAGT	0.488																																						dbGAP											0													162.0	132.0	142.0					1																	94526200		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2053A>T	1.37:g.94526200T>A	ENSP00000359245:p.Thr685Ser		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.T685S	ENST00000370225.3	37	c.2053	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.280147	0.80692	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.87966	-1.64;-2.32	5.63	5.63	0.86233	.	0.052587	0.85682	D	0.000000	D	0.85991	0.5826	L	0.48935	1.535	0.42975	D	0.994444	D;B	0.59357	0.985;0.022	P;B	0.61592	0.891;0.063	D	0.87967	0.2734	10	0.62326	D	0.03	.	8.4512	0.32871	0.0:0.1151:0.0:0.8849	.	685;685	F5H6E5;P78363	.;ABCA4_HUMAN	S	685	ENSP00000359245:T685S;ENSP00000437682:T685S	ENSP00000359245:T685S	T	-	1	0	ABCA4	94298788	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.118000	0.71583	2.156000	0.67533	0.528000	0.53228	ACC	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.488	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	80	0.00	0	T	NM_000350		94526200	94526200	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	1.000	A
ABCB9	23457	genome.wustl.edu	37	12	123433250	123433250	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:123433250G>A	ENST00000542678.1	-	5	3812	c.974C>T	c.(973-975)tCa>tTa	p.S325L	ABCB9_ENST00000540285.1_Missense_Mutation_p.S325L|ABCB9_ENST00000346530.5_Missense_Mutation_p.S325L|ABCB9_ENST00000392439.3_Missense_Mutation_p.S325L|ABCB9_ENST00000442028.2_Missense_Mutation_p.S325L|ABCB9_ENST00000442833.2_Missense_Mutation_p.S325L|ABCB9_ENST00000280560.8_Missense_Mutation_p.S325L|ABCB9_ENST00000344275.7_Missense_Mutation_p.S325L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	325	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)		GAGCTGCCATGAGAGGCTGAA	0.552																																					Ovarian(49;786 1333 9175 38236)	dbGAP											0													148.0	107.0	121.0					12																	123433250		2203	4300	6503	-	-	-	SO:0001583	missense	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.974C>T	12.37:g.123433250G>A	ENSP00000440288:p.Ser325Leu		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S325L	ENST00000542678.1	37	c.974	CCDS9241.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.350274	0.95830	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000540971;ENST00000536976;ENST00000541424	D;D;D;D;D;D;D;D;D	0.91295	-1.68;-2.82;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.83275	0.996;0.984;0.99;0.985;0.996	D	0.97787	1.0236	10	0.87932	D	0	-19.735	19.2341	0.93851	0.0:0.0:1.0:0.0	.	325;325;107;325;325	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	L	325;325;325;325;325;325;31;87;104	ENSP00000280560:S325L;ENSP00000441734:S325L;ENSP00000280559:S325L;ENSP00000376234:S325L;ENSP00000440288:S325L;ENSP00000394898:S325L;ENSP00000441086:S31L;ENSP00000443433:S87L;ENSP00000440138:S104L	ENSP00000280560:S325L	S	-	2	0	ABCB9	121999203	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	9.805000	0.99149	2.532000	0.85374	0.561000	0.74099	TCA	ABCB9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000150967		0.552	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB9	HGNC	protein_coding	OTTHUMT00000400956.1	58	0.00	0	G	NM_019624		123433250	123433250	-1	no_errors	ENST00000442028	ensembl	human	known	69_37n	missense	43	40.28	29	SNP	1.000	A
ABCG4	64137	genome.wustl.edu	37	11	119027683	119027683	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:119027683G>A	ENST00000449422.2	+	9	1215	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ABCG4_ENST00000307417.3_Missense_Mutation_p.E343K|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Missense_Mutation_p.E343K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	343					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGCAGCCCTGAGAAGAACGA	0.607																																						dbGAP											0													173.0	158.0	163.0					11																	119027683		2200	4295	6495	-	-	-	SO:0001583	missense	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1027G>A	11.37:g.119027683G>A	ENSP00000406874:p.Glu343Lys		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E343K	ENST00000449422.2	37	c.1027	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958773	0.74016	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739;ENST00000534402	D;D;D;T	0.87650	-2.28;-2.28;-2.28;0.86	5.65	5.65	0.86999	.	0.358097	0.33057	N	0.005332	T	0.71151	0.3306	N	0.03608	-0.345	0.34816	D	0.73822	B	0.18610	0.029	B	0.16722	0.016	T	0.71454	-0.4588	10	0.16896	T	0.51	-19.552	12.6473	0.56742	0.0763:0.0:0.9237:0.0	.	343	Q9H172	ABCG4_HUMAN	K	343;343;343;21	ENSP00000304111:E343K;ENSP00000406874:E343K;ENSP00000434318:E343K;ENSP00000434571:E21K	ENSP00000304111:E343K	E	+	1	0	ABCG4	118532893	0.998000	0.40836	0.989000	0.46669	0.963000	0.63663	3.711000	0.54868	2.648000	0.89879	0.655000	0.94253	GAG	ABCG4	-	NULL	ENSG00000172350		0.607	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	75	0.00	0	G	NM_022169		119027683	119027683	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	missense	22	53.19	25	SNP	1.000	A
ABLIM3	22885	genome.wustl.edu	37	5	148610219	148610219	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:148610219G>T	ENST00000506113.1	+	8	1247	c.765G>T	c.(763-765)gaG>gaT	p.E255D	ABLIM3_ENST00000508983.1_Missense_Mutation_p.E255D|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.E255D|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.E255D|ABLIM3_ENST00000504238.1_Missense_Mutation_p.E255D|ABLIM3_ENST00000309868.7_Missense_Mutation_p.E255D			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	255	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGTTCCGAGGTTTGGCACC	0.512																																						dbGAP											0													140.0	147.0	145.0					5																	148610219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.765G>T	5.37:g.148610219G>T	ENSP00000425394:p.Glu255Asp		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.E255D	ENST00000506113.1	37	c.765	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182544	0.38511	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.46	3.65	0.41850	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	N	0.17248	0.465	0.31329	N	0.685038	D;D;P	0.67145	0.992;0.996;0.545	D;D;P	0.77557	0.986;0.99;0.524	T	0.82127	-0.0611	10	0.29301	T	0.29	.	9.1426	0.36912	0.3205:0.0:0.6795:0.0	.	255;255;255	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	D	255	ENSP00000315841:E255D;ENSP00000348938:E255D;ENSP00000310309:E255D;ENSP00000425394:E255D;ENSP00000421183:E255D;ENSP00000420855:E255D	ENSP00000310309:E255D	E	+	3	2	ABLIM3	148590412	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	1.486000	0.35530	1.438000	0.47492	0.563000	0.77884	GAG	ABLIM3	-	pfam_Znf_LIM,smart_Znf_LIM	ENSG00000173210		0.512	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	127	0.00	0	G	NM_014945		148610219	148610219	+1	no_errors	ENST00000309868	ensembl	human	known	69_37n	missense	114	31.74	53	SNP	1.000	T
ACIN1	22985	genome.wustl.edu	37	14	23559272	23559272	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:23559272C>T	ENST00000262710.1	-	4	856	c.529G>A	c.(529-531)Gag>Aag	p.E177K	ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000555053.1_Missense_Mutation_p.E177K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E119K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	177	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCCACTCCCTCAGGATGGATC	0.572																																						dbGAP											0													48.0	38.0	41.0					14																	23559272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.529G>A	14.37:g.23559272C>T	ENSP00000262710:p.Glu177Lys		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E177K	ENST00000262710.1	37	c.529	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144067	0.77888	.	.	ENSG00000100813	ENST00000262710;ENST00000555053	T;T	0.19938	2.11;2.11	4.56	4.56	0.56223	.	0.000000	0.38837	N	0.001560	T	0.30727	0.0774	N	0.22421	0.69	0.80722	D	1	D;P	0.56035	0.974;0.956	D;D	0.70487	0.969;0.931	T	0.04400	-1.0954	10	0.66056	D	0.02	-6.7795	13.0215	0.58791	0.0:1.0:0.0:0.0	.	177;177	G3V3M7;Q9UKV3	.;ACINU_HUMAN	K	177	ENSP00000262710:E177K;ENSP00000451328:E177K	ENSP00000262710:E177K	E	-	1	0	ACIN1	22629112	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.276000	0.51646	2.534000	0.85438	0.484000	0.47621	GAG	ACIN1	-	NULL	ENSG00000100813		0.572	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	39	0.00	0	C	NM_014977		23559272	23559272	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	T
ACOT12	134526	genome.wustl.edu	37	5	80655778	80655778	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:80655778C>T	ENST00000307624.3	-	5	468	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	ACOT12_ENST00000513751.1_Missense_Mutation_p.R147Q	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	147					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATGTTGTAATCGAACTTTCCT	0.318																																						dbGAP											0													131.0	129.0	130.0					5																	80655778		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.440G>A	5.37:g.80655778C>T	ENSP00000303246:p.Arg147Gln		B3KVK9|Q5FWE9	Missense_Mutation	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd	p.R147Q	ENST00000307624.3	37	c.440	CCDS4055.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207934	0.79240	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.36520	1.25;1.25	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.66446	0.2790	M	0.86420	2.815	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	T	0.73341	-0.4013	10	0.87932	D	0	-16.9079	17.5307	0.87814	0.0:1.0:0.0:0.0	.	147;147	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	Q	147	ENSP00000303246:R147Q;ENSP00000421628:R147Q	ENSP00000303246:R147Q	R	-	2	0	ACOT12	80691534	0.997000	0.39634	0.935000	0.37517	0.490000	0.33462	4.877000	0.63086	2.508000	0.84585	0.655000	0.94253	CGA	ACOT12	-	NULL	ENSG00000172497		0.318	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	182	0.00	0	C	NM_130767		80655778	80655778	-1	no_errors	ENST00000307624	ensembl	human	known	69_37n	missense	171	29.63	72	SNP	0.991	T
LPAR5	57121	genome.wustl.edu	37	12	6748131	6748131	+	5'Flank	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:6748131G>A	ENST00000329858.4	-	0	0				ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.R467C|ACRBP_ENST00000229243.2_Missense_Mutation_p.R500C	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						TTCCGATTGCGGTTTCTCATC	0.532																																					NSCLC(74;891 2312 37538)	dbGAP											0													127.0	116.0	120.0					12																	6748131		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0			12.37:g.6748131G>A	Exception_encountered			Missense_Mutation	SNP	pfam_Proacrosin-bd	p.R500C	ENST00000329858.4	37	c.1498	CCDS8553.1	12	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800706	0.50315	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.31247	1.5;1.5	4.84	2.95	0.34219	Proteinase inhibitor I1, Kazal (1);	1.019770	0.07827	N	0.960793	T	0.25531	0.0621	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.44477	0.451;0.451	T	0.02232	-1.1191	10	0.72032	D	0.01	-13.1706	9.6311	0.39780	0.0:0.1545:0.685:0.1605	.	467;500	E7EP66;Q8NEB7	.;ACRBP_HUMAN	C	500;467	ENSP00000229243:R500C;ENSP00000402725:R467C	ENSP00000229243:R500C	R	-	1	0	ACRBP	6618392	0.991000	0.36638	0.855000	0.33649	0.928000	0.56348	0.942000	0.29017	0.598000	0.29829	0.561000	0.74099	CGC	ACRBP	-	NULL	ENSG00000111644		0.532	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400699.1	86	0.00	0	G	NM_020400		6748131	6748131	-1	no_errors	ENST00000229243	ensembl	human	known	69_37n	missense	68	20.00	17	SNP	0.813	A
ACRV1	56	genome.wustl.edu	37	11	125547821	125547821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:125547821C>A	ENST00000533904.1	-	2	766	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Nonsense_Mutation_p.E72*|ACRV1_ENST00000530048.1_Nonsense_Mutation_p.E87*|ACRV1_ENST00000445562.1_Nonsense_Mutation_p.E47*|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000315608.3_Nonsense_Mutation_p.E142*|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Nonsense_Mutation_p.E72*|ACRV1_ENST00000345274.1_Nonsense_Mutation_p.E72*			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	142	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GAAGGCTGTTCATCTGAAGGC	0.557																																						dbGAP											0													204.0	181.0	189.0					11																	125547821		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.424G>T	11.37:g.125547821C>A	ENSP00000432816:p.Glu142*		Q53FF4	Nonsense_Mutation	SNP	NULL	p.E142*	ENST00000533904.1	37	c.424	CCDS8460.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.728524	0.96856	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000345274;ENST00000315608;ENST00000530048;ENST00000527795	.	.	.	4.71	4.71	0.59529	.	0.000000	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-18.2854	15.9645	0.79956	0.0:1.0:0.0:0.0	.	.	.	.	X	142;142;87;72;72;47;72;142;87;72	.	ENSP00000257382:E87X	E	-	1	0	ACRV1	125053031	0.837000	0.29446	0.522000	0.27862	0.071000	0.16799	2.151000	0.42263	2.543000	0.85770	0.655000	0.94253	GAA	ACRV1	-	NULL	ENSG00000134940		0.557	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACRV1	HGNC	protein_coding	OTTHUMT00000386722.1	205	0.00	0	C	NM_001612		125547821	125547821	-1	no_errors	ENST00000533904	ensembl	human	known	69_37n	nonsense	92	57.99	127	SNP	0.999	A
ACSL4	2182	genome.wustl.edu	37	X	108926090	108926090	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:108926090A>G	ENST00000469796.2	-	4	783	c.387T>C	c.(385-387)ctT>ctC	p.L129L	ACSL4_ENST00000340800.2_Silent_p.L129L|ACSL4_ENST00000348502.6_Silent_p.L88L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	129					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GATTCACTTCAAGATAGTTCA	0.358																																					Pancreas(188;358 2127 38547 41466 45492)	dbGAP											0													104.0	93.0	97.0					X																	108926090		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.387T>C	X.37:g.108926090A>G			D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L129	ENST00000469796.2	37	c.387	CCDS14548.1	X																																																																																			ACSL4	-	pfam_AMP-dep_Synth/Lig	ENSG00000068366		0.358	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	81	0.00	0	A	NM_004458		108926090	108926090	-1	no_errors	ENST00000340800	ensembl	human	known	69_37n	silent	27	50.00	27	SNP	0.010	G
ACTL7A	10881	genome.wustl.edu	37	9	111625579	111625579	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:111625579C>G	ENST00000333999.3	+	1	977	c.977C>G	c.(976-978)tCt>tGt	p.S326C		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	326						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAAGCCATCTCTCATCAAG	0.562																																					Esophageal Squamous(177;1480 3591 17554)	dbGAP											0													135.0	120.0	125.0					9																	111625579		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.977C>G	9.37:g.111625579C>G	ENSP00000334300:p.Ser326Cys		B2RC83|Q5JSV0	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S326C	ENST00000333999.3	37	c.977	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	C	14.48	2.546960	0.45383	.	.	ENSG00000187003	ENST00000333999	D	0.95137	-3.62	5.34	3.51	0.40186	.	0.000000	0.44285	D	0.000471	D	0.96315	0.8798	M	0.85462	2.755	0.47547	D	0.999459	D	0.54772	0.968	P	0.55577	0.779	D	0.96047	0.9028	10	0.87932	D	0	.	13.0212	0.58789	0.294:0.706:0.0:0.0	.	326	Q9Y615	ACL7A_HUMAN	C	326	ENSP00000334300:S326C	ENSP00000334300:S326C	S	+	2	0	ACTL7A	110665400	0.889000	0.30405	0.546000	0.28166	0.682000	0.39822	2.089000	0.41672	0.751000	0.32900	-1.038000	0.02383	TCT	ACTL7A	-	pfam_Actin-like,smart_Actin-like	ENSG00000187003		0.562	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	34	0.00	0	C	NM_006687		111625579	111625579	+1	no_errors	ENST00000333999	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	0.999	G
ACTN2	88	genome.wustl.edu	37	1	236914796	236914796	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:236914796C>G	ENST00000366578.4	+	15	1849	c.1683C>G	c.(1681-1683)ttC>ttG	p.F561L	ACTN2_ENST00000542672.1_Missense_Mutation_p.F561L|ACTN2_ENST00000546208.1_Missense_Mutation_p.F55L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	561					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATGAGCAGTTCAAGGCCACGC	0.507																																						dbGAP											0													69.0	60.0	63.0					1																	236914796		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1683C>G	1.37:g.236914796C>G	ENSP00000355537:p.Phe561Leu		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.F561L	ENST00000366578.4	37	c.1683	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738763	0.69304	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.76839	-1.05;-1.05;-1.05	5.08	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	M	0.87097	2.86	0.53688	D	0.999975	D;B;D;P	0.57899	0.965;0.134;0.981;0.877	D;B;D;D	0.79108	0.992;0.215;0.992;0.937	D	0.86249	0.1648	10	0.59425	D	0.04	.	6.3057	0.21137	0.0:0.675:0.0:0.325	.	346;561;331;561	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	L	561;561;55;330	ENSP00000443495:F561L;ENSP00000355537:F561L;ENSP00000438384:F55L	ENSP00000355537:F561L	F	+	3	2	ACTN2	234981419	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.613000	0.36900	1.151000	0.42436	0.563000	0.77884	TTC	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.507	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	44	0.00	0	C	NM_001103		236914796	236914796	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	1.000	G
ACTR8	93973	genome.wustl.edu	37	3	53902779	53902779	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:53902779G>A	ENST00000335754.3	-	13	1942	c.1842C>T	c.(1840-1842)cgC>cgT	p.R614R	ACTR8_ENST00000231909.7_Silent_p.R319R|ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000482349.1_Silent_p.R503R	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	614					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CTCGTAACATGCGGACACCAA	0.498																																						dbGAP											0													99.0	86.0	91.0					3																	53902779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1842C>T	3.37:g.53902779G>A			B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.A368V	ENST00000335754.3	37	c.1103	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301790	0.23736	.	.	ENSG00000113812	ENST00000486794	.	.	.	5.91	5.02	0.67125	.	.	.	.	.	T	0.48840	0.1522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49041	-0.8980	4	.	.	.	-13.0856	4.2072	0.10495	0.073:0.196:0.468:0.263	.	.	.	.	V	368	.	.	A	-	2	0	ACTR8	53877819	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.397000	0.34543	1.446000	0.47643	0.650000	0.86243	GCA	ACTR8	-	pfam_Actin-like,smart_Actin-like	ENSG00000113812		0.498	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	139	0.00	0	G	NM_022899		53902779	53902779	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000486794	ensembl	human	novel	69_37n	missense	57	34.48	30	SNP	1.000	A
ACVR2A	92	genome.wustl.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs|ACVR2A_ENST00000495775.1_3'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																						dbGAP											3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)											156.0	129.0	138.0					2																	148683686		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.K437fs	ENST00000241416.7	37	c.1303	CCDS33301.1	2																																																																																			ACVR2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000121989		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	115	0.00	0	A	NM_001616		148683686	148683686	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	frame_shift_del	70	36.94	41	DEL	1.000	-
ACY3	91703	genome.wustl.edu	37	11	67412606	67412606	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:67412606delG	ENST00000255082.3	-	6	714	c.544delC	c.(544-546)cagfs	p.Q182fs	ACY3_ENST00000529256.1_Frame_Shift_Del_p.Q61fs	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	182	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCCTGTGGCTGGGGGCCCAGC	0.607																																					GBM(56;346 1011 27014 29495 46841)	dbGAP											0													56.0	65.0	62.0					11																	67412606		2200	4294	6494	-	-	-	SO:0001589	frameshift_variant	0			BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.544delC	11.37:g.67412606delG	ENSP00000255082:p.Gln182fs			Frame_Shift_Del	DEL	pfam_Aste_AspA,pirsf_Aspartoacylase	p.Q182fs	ENST00000255082.3	37	c.544	CCDS8175.1	11																																																																																			ACY3	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000132744		0.607	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY3	HGNC	protein_coding	OTTHUMT00000394002.1	47	0.00	0	G	NM_080658		67412606	67412606	-1	no_errors	ENST00000255082	ensembl	human	known	69_37n	frame_shift_del	14	30.00	6	DEL	1.000	-
ADAM19	8728	genome.wustl.edu	37	5	156921772	156921772	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:156921772C>T	ENST00000517905.1	-	15	1670	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	ADAM19_ENST00000394020.1_Silent_p.E544E|ADAM19_ENST00000257527.4_Silent_p.E542E|ADAM19_ENST00000430702.2_Silent_p.E275E			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	542	Cys-rich.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTCACCTTCTCGAAGCAGA	0.527																																						dbGAP											0													151.0	125.0	134.0					5																	156921772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1626G>A	5.37:g.156921772C>T			Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,prints_Blood-coag_inhib_Disintegrin	p.R113K	ENST00000517905.1	37	c.338		5	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216403	0.22373	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.38	4.52	0.55395	.	.	.	.	.	T	0.69717	0.3142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68697	-0.5340	4	.	.	.	.	13.9779	0.64284	0.0:0.927:0.0:0.073	.	.	.	.	K	113	.	.	R	-	2	0	ADAM19	156854350	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.297000	0.43593	1.264000	0.44198	0.655000	0.94253	AGA	ADAM19	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000135074		0.527	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	137	0.00	0	C	NM_033274		156921772	156921772	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000517374	ensembl	human	putative	69_37n	missense	113	32.74	55	SNP	1.000	T
ADAMDEC1	27299	genome.wustl.edu	37	8	24259557	24259557	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:24259557G>A	ENST00000256412.4	+	12	1492	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	ADAMDEC1_ENST00000538205.1_Silent_p.G345G|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.G345G	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	424	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAGTGTGTGGGAACCACCTTC	0.398																																					Ovarian(147;687 1849 3699 25981 31337)	dbGAP											0													102.0	103.0	102.0					8																	24259557		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1272G>A	8.37:g.24259557G>A			B7ZAK5	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.G424	ENST00000256412.4	37	c.1272	CCDS6044.1	8																																																																																			ADAMDEC1	-	pfscan_Blood-coag_inhib_Disintegrin	ENSG00000134028		0.398	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	78	0.00	0	G	NM_014479		24259557	24259557	+1	no_errors	ENST00000256412	ensembl	human	known	69_37n	silent	33	57.69	45	SNP	0.997	A
ADCK5	203054	genome.wustl.edu	37	8	145615938	145615938	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:145615938G>A	ENST00000308860.6	+	4	378	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ADCK5_ENST00000526231.2_3'UTR|ADCK5_ENST00000532190.1_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	112						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTTCGAGGGGTGGAAGAGGT	0.632																																						dbGAP											0													142.0	114.0	123.0					8																	145615938		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.334G>A	8.37:g.145615938G>A	ENSP00000310547:p.Val112Met		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.V112M	ENST00000308860.6	37	c.334	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131274	0.37630	.	.	ENSG00000173137	ENST00000308860	T	0.76060	-0.99	4.03	4.03	0.46877	.	0.343026	0.23314	N	0.049535	T	0.67002	0.2847	L	0.53249	1.67	0.80722	D	1	B	0.30793	0.295	B	0.26202	0.067	T	0.67852	-0.5563	10	0.42905	T	0.14	-37.5878	11.5498	0.50715	0.0:0.0:1.0:0.0	.	112	Q3MIX3	ADCK5_HUMAN	M	112	ENSP00000310547:V112M	ENSP00000310547:V112M	V	+	1	0	ADCK5	145586746	0.031000	0.19500	0.995000	0.50966	0.525000	0.34531	0.185000	0.16958	2.079000	0.62486	0.655000	0.94253	GTG	ADCK5	-	NULL	ENSG00000173137		0.632	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	140	0.00	0	G	NM_174922		145615938	145615938	+1	no_errors	ENST00000308860	ensembl	human	known	69_37n	missense	35	45.31	29	SNP	0.962	A
ADCY10	55811	genome.wustl.edu	37	1	167873162	167873162	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:167873162C>T	ENST00000367851.4	-	3	400	c.216G>A	c.(214-216)gtG>gtA	p.V72V	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	72	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGGATCTCCACCAACTGCT	0.438																																						dbGAP											0													164.0	147.0	153.0					1																	167873162		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.216G>A	1.37:g.167873162C>T			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.V72	ENST00000367851.4	37	c.216	CCDS1265.1	1																																																																																			ADCY10	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	ENSG00000143199		0.438	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	130	0.00	0	C	NM_018417		167873162	167873162	-1	no_errors	ENST00000367851	ensembl	human	known	69_37n	silent	103	35.62	57	SNP	1.000	T
ADCY4	196883	genome.wustl.edu	37	14	24788637	24788637	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:24788637G>T	ENST00000310677.4	-	23	2852	c.2739C>A	c.(2737-2739)ctC>ctA	p.L913L	ADCY4_ENST00000554068.2_Silent_p.L913L|ADCY4_ENST00000418030.2_Silent_p.L913L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	913					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGGGCTTGGAGAGCAGCTGTA	0.532																																						dbGAP											0													139.0	118.0	125.0					14																	24788637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2739C>A	14.37:g.24788637G>T			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L913	ENST00000310677.4	37	c.2739	CCDS9627.1	14																																																																																			ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000129467		0.532	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	119	0.83	1	G			24788637	24788637	-1	no_errors	ENST00000310677	ensembl	human	known	69_37n	silent	100	36.31	57	SNP	1.000	T
ADH5	128	genome.wustl.edu	37	4	100003226	100003226	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:100003226C>G	ENST00000296412.8	-	3	206	c.156G>C	c.(154-156)ctG>ctC	p.L52L	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CAGCTCCACTCAGGGTATAGG	0.473																																						dbGAP											0													76.0	71.0	72.0					4																	100003226		1919	4141	6060	-	-	-	SO:0001819	synonymous_variant	0			M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.156G>C	4.37:g.100003226C>G				Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3	p.L52	ENST00000296412.8	37	c.156	CCDS47111.1	4																																																																																			ADH5	-	pfam_ADH_GroES-like,superfamily_GroES-like,tigrfam_ADH_3	ENSG00000197894		0.473	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH5	HGNC	protein_coding	OTTHUMT00000364224.1	111	0.00	0	C	NM_000671		100003226	100003226	-1	no_errors	ENST00000296412	ensembl	human	known	69_37n	silent	39	49.35	38	SNP	0.991	G
ADNP2	22850	genome.wustl.edu	37	18	77893955	77893955	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:77893955G>A	ENST00000262198.4	+	4	1114	c.659G>A	c.(658-660)tGc>tAc	p.C220Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	220					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTAAAAAGTGCAACGCCAAT	0.403																																						dbGAP											0													92.0	93.0	93.0					18																	77893955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.659G>A	18.37:g.77893955G>A	ENSP00000262198:p.Cys220Tyr		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.C220Y	ENST00000262198.4	37	c.659	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767282	0.69878	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.31	4.44	0.53790	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.43986	0.1272	L	0.34521	1.04	0.45354	D	0.99834	P	0.46142	0.873	B	0.42959	0.403	T	0.32322	-0.9911	8	.	.	.	-18.1675	13.9348	0.64020	0.0724:0.0:0.9276:0.0	.	220	Q6IQ32	ADNP2_HUMAN	Y	220	.	.	C	+	2	0	ADNP2	75994946	1.000000	0.71417	0.981000	0.43875	0.914000	0.54420	8.192000	0.89718	1.488000	0.48433	0.591000	0.81541	TGC	ADNP2	-	smart_Znf_C2H2-like	ENSG00000101544		0.403	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	70	0.00	0	G	NM_014913		77893955	77893955	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	missense	38	26.92	14	SNP	1.000	A
ADORA1	134	genome.wustl.edu	37	1	203098124	203098124	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:203098124C>T	ENST00000367236.4	+	2	1076	c.155C>T	c.(154-156)gCg>gTg	p.A52V	ADORA1_ENST00000367235.1_Missense_Mutation_p.A52V|ADORA1_ENST00000337894.4_Missense_Mutation_p.A52V|ADORA1_ENST00000309502.3_Missense_Mutation_p.A52V|RP11-335O13.7_ENST00000421055.1_RNA	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	52					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	GTGTCGCTGGCGGTGGCTGAT	0.627																																						dbGAP											0													213.0	151.0	172.0					1																	203098124		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.155C>T	1.37:g.203098124C>T	ENSP00000356205:p.Ala52Val		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adenosn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.A52V	ENST00000367236.4	37	c.155	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959795	0.92791	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894;ENST00000367235	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.17	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.099958	0.64402	D	0.000002	T	0.81365	0.4807	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87744	0.2587	10	0.87932	D	0	-30.9987	14.9021	0.70687	0.1445:0.8555:0.0:0.0	.	85;52	B7Z379;P30542	.;AA1R_HUMAN	V	52	ENSP00000308549:A52V;ENSP00000356205:A52V;ENSP00000338435:A52V;ENSP00000356204:A52V	ENSP00000308549:A52V	A	+	2	0	ADORA1	201364747	1.000000	0.71417	0.913000	0.36048	0.988000	0.76386	7.762000	0.85270	1.115000	0.41800	0.655000	0.94253	GCG	ADORA1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000163485		0.627	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	127	0.00	0	C	NM_000674		203098124	203098124	+1	no_errors	ENST00000309502	ensembl	human	known	69_37n	missense	76	29.63	32	SNP	1.000	T
AGAP7P	653268	genome.wustl.edu	37	10	51465078	51465078	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:51465078C>T	ENST00000374095.5	-	7	1503	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		460	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTCTGGGTCTCACAGTCCACA	0.562																																						dbGAP											0													8.0	9.0	9.0					10																	51465078		1714	3808	5522	-	-	-	SO:0001583	missense	0																														ENST00000374095.5:c.1378G>A	10.37:g.51465078C>T	ENSP00000363208:p.Glu460Lys		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,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.E460K	ENST00000374095.5	37	c.1378	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	16.12	3.033707	0.54896	.	.	ENSG00000204169	ENST00000374095	T	0.40756	1.02	.	.	.	.	0.472434	0.22644	N	0.057405	T	0.29524	0.0736	N	0.17631	0.505	0.36177	D	0.849141	P	0.38110	0.618	P	0.45538	0.484	T	0.19745	-1.0296	9	0.34782	T	0.22	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	460	Q5VUJ5	AGAP7_HUMAN	K	460	ENSP00000363208:E460K	ENSP00000363208:E460K	E	-	1	0	AGAP7	51135084	0.990000	0.36364	0.245000	0.24217	0.248000	0.25809	4.891000	0.63185	0.172000	0.19760	0.175000	0.17021	GAG	AGAP7	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	ENSG00000204169		0.562	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	64	0.00	0	C			51465078	51465078	-1	no_errors	ENST00000374095	ensembl	human	known	69_37n	missense	102	12.82	15	SNP	1.000	T
AGBL1	123624	genome.wustl.edu	37	15	86702163	86702163	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:86702163G>A	ENST00000441037.2	+	4	351		c.e4-1		AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTTTTTCTTAGTCTCCATGGG	0.433																																						dbGAP											0													119.0	107.0	111.0					15																	86702163		1887	4108	5995	-	-	-	SO:0001630	splice_region_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.257-1G>A	15.37:g.86702163G>A			A1A4X5|A6NJH6|C9JHL5	Splice_Site	SNP	-	e3-1	ENST00000441037.2	37	c.257-1	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852395	0.51270	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1673	0.65486	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGBL1	84503167	1.000000	0.71417	0.950000	0.38849	0.624000	0.37722	5.401000	0.66326	2.478000	0.83669	0.655000	0.94253	.	AGBL1	-	-	ENSG00000166748		0.433	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	128	0.78	1	G	NM_152336	Intron	86702163	86702163	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	splice_site	42	55.32	52	SNP	0.989	A
AGBL3	340351	genome.wustl.edu	37	7	134819798	134819798	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:134819798G>A	ENST00000436302.2	+	17	2801	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	AGBL3_ENST00000458078.1_Missense_Mutation_p.E905K|C7orf49_ENST00000459937.1_Intron|AGBL3_ENST00000435976.2_Intron	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	931						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						CATAAAGAATGAAGACATAAA	0.413																																						dbGAP											0													111.0	94.0	99.0					7																	134819798		692	1591	2283	-	-	-	SO:0001583	missense	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.2548G>A	7.37:g.134819798G>A	ENSP00000388275:p.Glu850Lys		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.E905K	ENST00000436302.2	37	c.2713	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680768	0.29872	.	.	ENSG00000146856	ENST00000436302;ENST00000458078	T;T	0.08720	3.06;3.14	4.81	-0.285	0.12866	.	.	.	.	.	T	0.02047	0.0064	N	0.01576	-0.805	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.45614	-0.9249	9	0.02654	T	1	-0.9275	4.3738	0.11260	0.5916:0.1957:0.2127:0.0	.	850	Q8NEM8-4	.	K	850;905	ENSP00000388275:E850K;ENSP00000395969:E905K	ENSP00000388275:E850K	E	+	1	0	AGBL3	134470338	0.014000	0.17966	0.099000	0.21106	0.724000	0.41520	0.393000	0.20817	0.057000	0.16193	0.591000	0.81541	GAA	AGBL3	-	NULL	ENSG00000146856		0.413	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	76	0.00	0	G	NM_178563		134819798	134819798	+1	no_errors	ENST00000458078	ensembl	human	known	69_37n	missense	72	30.77	32	SNP	0.029	A
AHI1	54806	genome.wustl.edu	37	6	135778809	135778809	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:135778809T>C	ENST00000367800.4	-	7	1190	c.974A>G	c.(973-975)gAa>gGa	p.E325G	AHI1_ENST00000457866.2_Missense_Mutation_p.E325G|AHI1_ENST00000327035.6_Missense_Mutation_p.E325G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	325	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GCTTGTTATTTCATGAACACC	0.358																																						dbGAP											0													169.0	161.0	163.0					6																	135778809		1912	4115	6027	-	-	-	SO:0001583	missense	0			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.974A>G	6.37:g.135778809T>C	ENSP00000356774:p.Glu325Gly		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.E325G	ENST00000367800.4	37	c.974	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503275	0.44558	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.64438	-0.06;-0.06;-0.06;-0.1	5.5	5.5	0.81552	.	0.053904	0.64402	D	0.000001	T	0.53465	0.1798	L	0.59436	1.845	0.80722	D	1	P;P	0.44478	0.836;0.747	B;B	0.44085	0.44;0.255	T	0.62868	-0.6763	10	0.72032	D	0.01	-27.4485	14.7978	0.69891	0.0:0.0:0.0:1.0	.	325;325	Q8N157-2;Q8N157	.;AHI1_HUMAN	G	325	ENSP00000356774:E325G;ENSP00000388650:E325G;ENSP00000265602:E325G;ENSP00000322478:E325G	ENSP00000265602:E325G	E	-	2	0	AHI1	135820502	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	4.738000	0.62073	2.090000	0.63153	0.377000	0.23210	GAA	AHI1	-	NULL	ENSG00000135541		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	98	0.00	0	T	NM_017651		135778809	135778809	-1	no_errors	ENST00000265602	ensembl	human	known	69_37n	missense	133	15.29	24	SNP	1.000	C
AHNAK2	113146	genome.wustl.edu	37	14	105410897	105410897	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:105410897C>T	ENST00000333244.5	-	7	11010	c.10891G>A	c.(10891-10893)Gtg>Atg	p.V3631M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3631						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGCAGTCACGTCCTTGTCA	0.602																																						dbGAP											0													173.0	184.0	181.0					14																	105410897		2029	4189	6218	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10891G>A	14.37:g.105410897C>T	ENSP00000353114:p.Val3631Met		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3631M	ENST00000333244.5	37	c.10891	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	9.838	1.190199	0.21954	.	.	ENSG00000185567	ENST00000333244	T	0.01059	5.39	4.11	-3.61	0.04556	.	.	.	.	.	T	0.01124	0.0037	M	0.72479	2.2	0.09310	N	1	P	0.37398	0.593	B	0.24701	0.055	T	0.36504	-0.9745	9	0.51188	T	0.08	.	0.721	0.00941	0.2675:0.3592:0.1306:0.2426	.	3631	Q8IVF2	AHNK2_HUMAN	M	3631	ENSP00000353114:V3631M	ENSP00000353114:V3631M	V	-	1	0	AHNAK2	104481942	0.267000	0.24122	0.009000	0.14445	0.020000	0.10135	0.878000	0.28126	-0.801000	0.04427	-0.424000	0.05967	GTG	AHNAK2	-	NULL	ENSG00000185567		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	115	0.00	0	C	NM_138420		105410897	105410897	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	118	32.95	58	SNP	0.000	T
AKAP9	10142	genome.wustl.edu	37	7	91641902	91641902	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:91641902G>C	ENST00000359028.2	+	10	3739	c.3514G>C	c.(3514-3516)Gaa>Caa	p.E1172Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1172Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1160Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1172					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGATCAAGGAACTTCAGAA	0.328			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													78.0	81.0	80.0					7																	91641902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3514G>C	7.37:g.91641902G>C	ENSP00000351922:p.Glu1172Gln		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E1172Q	ENST00000359028.2	37	c.3514		7	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076085	0.55646	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03524	3.91;3.91;3.9	4.66	4.66	0.58398	.	0.000000	0.38058	N	0.001824	T	0.17577	0.0422	M	0.69823	2.125	0.44899	D	0.997915	D;D;D;D	0.76494	0.985;0.991;0.996;0.999	D;D;P;D	0.73708	0.958;0.981;0.907;0.935	T	0.00304	-1.1832	10	0.54805	T	0.06	.	18.0887	0.89466	0.0:0.0:1.0:0.0	.	1172;1160;1160;1172	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Q	1160;1172;1172;1172;1172	ENSP00000348573:E1160Q;ENSP00000351922:E1172Q;ENSP00000350813:E1172Q	ENSP00000348573:E1160Q	E	+	1	0	AKAP9	91479838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.099000	0.57755	2.550000	0.86006	0.655000	0.94253	GAA	AKAP9	-	NULL	ENSG00000127914		0.328	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		88	0.00	0	G	NM_005751		91641902	91641902	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	51	42.05	37	SNP	1.000	C
AK9	221264	genome.wustl.edu	37	6	109814642	109814642	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:109814642C>T	ENST00000424296.2	-	41	5742	c.5666G>A	c.(5665-5667)aGa>aAa	p.R1889K	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1889					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GTCAATGGCTCTGAACTGAGG	0.378																																						dbGAP											0													206.0	203.0	204.0					6																	109814642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5666G>A	6.37:g.109814642C>T	ENSP00000410186:p.Arg1889Lys		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.R1889K	ENST00000424296.2	37	c.5666	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.80|18.80	3.701544|3.701544	0.68501|0.68501	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.69040	.|-0.37	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.157801	.|0.52532	.|D	.|0.000065	T|T	0.77968|0.77968	0.4210|0.4210	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.70935	.|0.971;0.918	T|T	0.76358|0.76358	-0.2988|-0.2988	5|9	.|.	.|.	.|.	.|.	19.5676|19.5676	0.95401|0.95401	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|274;1889	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	K|K	727|1889	.|ENSP00000410186:R1889K	.|.	E|R	-|-	1|2	0|0	AKD1|AKD1	109921335|109921335	0.961000|0.961000	0.32948|0.32948	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	3.258000|3.258000	0.51507|0.51507	2.623000|2.623000	0.88846|0.88846	0.591000|0.591000	0.81541|0.81541	GAG|AGA	AKD1	-	NULL	ENSG00000155085		0.378	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		143	0.00	0	C	NM_001145128		109814642	109814642	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	46	68.06	98	SNP	0.995	T
AK9	221264	genome.wustl.edu	37	6	109819084	109819084	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:109819084T>G	ENST00000424296.2	-	37	5207	c.5131A>C	c.(5131-5133)Aca>Cca	p.T1711P	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1711					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCTGACAGTGTCAGTCTTTTG	0.478																																						dbGAP											0													144.0	135.0	138.0					6																	109819084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5131A>C	6.37:g.109819084T>G	ENSP00000410186:p.Thr1711Pro		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.T1711P	ENST00000424296.2	37	c.5131	CCDS55048.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.56|17.56|17.56	3.419450|3.419450|3.419450	0.62622|0.62622|0.62622	.|.|.	.|.|.	ENSG00000155085|ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000424296|ENST00000470564	.|T|.	.|0.66099|.	.|-0.19|.	5.33|5.33|5.33	5.33|5.33|5.33	0.75918|0.75918|0.75918	.|.|.	.|0.048190|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.63367|0.63367|.	0.2505|0.2505|.	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P;D|.	.|0.89917|.	.|0.64;1.0|.	.|B;D|.	.|0.77004|.	.|0.199;0.989|.	T|T|.	0.64326|0.64326|.	-0.6434|-0.6434|.	5|9|.	.|.|.	.|.|.	.|.|.	.|.|.	15.3065|15.3065|15.3065	0.73995|0.73995|0.73995	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|96;1711|.	.|B7ZL24;Q5TCS8|.	.|.;AKD1_HUMAN|.	A|P|C	111|1711|548	.|ENSP00000410186:T1711P|.	.|.|.	D|T|X	-|-|-	2|1|3	0|0|0	AKD1|AKD1|AKD1	109925777|109925777|109925777	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.398000|0.398000|0.398000	0.30690|0.30690|0.30690	7.103000|7.103000|7.103000	0.77014|0.77014|0.77014	2.025000|2.025000|2.025000	0.59659|0.59659|0.59659	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	GAC|ACA|TGA	AKD1	-	NULL	ENSG00000155085		0.478	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		99	1.00	1	T	NM_001145128		109819084	109819084	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	34	64.95	63	SNP	1.000	G
ALDH1L1	10840	genome.wustl.edu	37	3	125874329	125874329	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:125874329C>T	ENST00000393434.2	-	5	895	c.546G>A	c.(544-546)ctG>ctA	p.L182L	ALDH1L1_ENST00000273450.3_Silent_p.L192L|ALDH1L1_ENST00000455064.2_Silent_p.L7L|ALDH1L1_ENST00000472186.1_Silent_p.L182L|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Silent_p.L182L|ALDH1L1_ENST00000413612.1_5'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	182	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTCAGCGATCAGCCTCACGG	0.627																																						dbGAP											0													84.0	72.0	76.0					3																	125874329		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.546G>A	3.37:g.125874329C>T			B4DG36|E9PBX3|Q68CS1	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.L182	ENST00000393434.2	37	c.546	CCDS3034.1	3																																																																																			ALDH1L1	-	superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000144908		0.627	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	60	0.00	0	C	NM_012190		125874329	125874329	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	silent	8	61.90	13	SNP	0.995	T
ALG10	84920	genome.wustl.edu	37	12	34176968	34176968	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:34176968G>C	ENST00000266483.2	+	2	562	c.243G>C	c.(241-243)tgG>tgC	p.W81C	ALG10_ENST00000538927.1_Missense_Mutation_p.W81C|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	81					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTGCCATTTGGATCTTTGGAT	0.378																																						dbGAP											0													360.0	342.0	348.0					12																	34176968		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.243G>C	12.37:g.34176968G>C	ENSP00000266483:p.Trp81Cys		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	p.W81C	ENST00000266483.2	37	c.243	CCDS41769.1	12	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725686	0.48833	.	.	ENSG00000139133	ENST00000266483;ENST00000538927	T;T	0.55052	0.54;0.54	3.57	3.57	0.40892	.	0.053435	0.85682	D	0.000000	T	0.67915	0.2944	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	P	0.62491	0.903	T	0.69862	-0.5030	10	0.38643	T	0.18	.	13.0793	0.59104	0.0:0.0:1.0:0.0	.	81	Q5BKT4	AG10A_HUMAN	C	81	ENSP00000266483:W81C;ENSP00000444084:W81C	ENSP00000266483:W81C	W	+	3	0	ALG10	34068235	1.000000	0.71417	0.903000	0.35520	0.637000	0.38172	9.431000	0.97494	1.729000	0.51567	0.184000	0.17185	TGG	ALG10	-	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	ENSG00000139133		0.378	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1	302	0.00	0	G	NM_032834		34176968	34176968	+1	no_errors	ENST00000266483	ensembl	human	known	69_37n	missense	279	31.71	130	SNP	1.000	C
ANGPT4	51378	genome.wustl.edu	37	20	896631	896631	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:896631G>T	ENST00000381922.3	-	1	329	c.227C>A	c.(226-228)cCa>cAa	p.P76Q	ANGPT4_ENST00000546022.1_Missense_Mutation_p.P76Q	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	76					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CAGGTGCAGTGGGTTGGCCAG	0.607																																					Pancreas(181;481 2077 3259 31286 49856)	dbGAP											0													122.0	106.0	112.0					20																	896631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.227C>A	20.37:g.896631G>T	ENSP00000371347:p.Pro76Gln		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.P76Q	ENST00000381922.3	37	c.227	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	G	4.240	0.043542	0.08196	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.15952	2.38;2.38	4.16	0.765	0.18470	.	1.976360	0.02988	N	0.146521	T	0.13114	0.0318	L	0.27053	0.805	0.09310	N	1	B;B	0.29432	0.244;0.244	B;B	0.22386	0.039;0.039	T	0.28106	-1.0054	10	0.49607	T	0.09	.	7.0646	0.25145	0.0:0.3728:0.4497:0.1775	.	76;76	B4E3J9;Q9Y264	.;ANGP4_HUMAN	Q	76	ENSP00000371347:P76Q;ENSP00000439605:P76Q	ENSP00000371347:P76Q	P	-	2	0	ANGPT4	844631	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.405000	0.21015	0.008000	0.14787	0.484000	0.47621	CCA	ANGPT4	-	NULL	ENSG00000101280		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	85	0.00	0	G	NM_015985		896631	896631	-1	no_errors	ENST00000381922	ensembl	human	known	69_37n	missense	43	21.43	12	SNP	0.001	T
ANK2	287	genome.wustl.edu	37	4	114232536	114232536	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:114232536G>C	ENST00000357077.4	+	24	2727	c.2674G>C	c.(2674-2676)Gag>Cag	p.E892Q	ANK2_ENST00000506722.1_Missense_Mutation_p.E871Q|ANK2_ENST00000394537.3_Missense_Mutation_p.E892Q|ANK2_ENST00000509550.1_Missense_Mutation_p.E101Q|ANK2_ENST00000264366.6_Missense_Mutation_p.E892Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	892					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACAGCTTGGAGGGAGGACG	0.418																																						dbGAP											0													134.0	112.0	119.0					4																	114232536		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2674G>C	4.37:g.114232536G>C	ENSP00000349588:p.Glu892Gln		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E892Q	ENST00000357077.4	37	c.2674	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685268	0.68157	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.77358	-0.22;-0.09;-0.33;-0.18;-0.27;-0.3;-0.38;-1.09	5.15	5.15	0.70609	.	0.000000	0.52532	D	0.000072	D	0.83732	0.5318	L	0.48642	1.525	0.80722	D	1	D;D;B;D;P;P	0.76494	0.998;0.999;0.249;0.974;0.787;0.621	P;D;B;P;P;B	0.65874	0.863;0.939;0.162;0.853;0.461;0.206	T	0.80903	-0.1174	10	0.28530	T	0.3	.	19.0034	0.92842	0.0:0.0:1.0:0.0	.	101;892;892;892;871;871	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	Q	871;838;871;907;892;892;892;871;101	ENSP00000423799:E871Q;ENSP00000421011:E838Q;ENSP00000421067:E871Q;ENSP00000424722:E907Q;ENSP00000378044:E892Q;ENSP00000349588:E892Q;ENSP00000264366:E892Q;ENSP00000426944:E101Q	ENSP00000264366:E892Q	E	+	1	0	ANK2	114451985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.033000	0.93741	2.547000	0.85894	0.655000	0.94253	GAG	ANK2	-	NULL	ENSG00000145362		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	81	0.00	0	G	NM_001148		114232536	114232536	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	41	50.60	42	SNP	1.000	C
ANKHD1	54882	genome.wustl.edu	37	5	139781841	139781841	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:139781841G>A	ENST00000360839.2	+	1	443	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ANKHD1_ENST00000297183.6_Missense_Mutation_p.E97K|CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1_ENST00000394722.3_Missense_Mutation_p.E97K|ANKHD1_ENST00000394723.3_Missense_Mutation_p.E97K|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E97K	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	97						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGTGACGAGGACGAAGT	0.672																																						dbGAP											0													22.0	20.0	21.0					5																	139781841		1910	3803	5713	-	-	-	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.289G>A	5.37:g.139781841G>A	ENSP00000354085:p.Glu97Lys		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.E97K	ENST00000360839.2	37	c.289	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033928	0.75504	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.72835	-0.36;-0.4;-0.31;-0.2;-0.69;-0.29;-0.4	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.65815	0.995;0.992;0.992;0.995;0.995	D;D;P;D;D	0.68192	0.956;0.935;0.905;0.956;0.956	T	0.78201	-0.2296	10	0.59425	D	0.04	.	17.8969	0.88891	0.0:0.0:1.0:0.0	.	97;97;97;97;97	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	K	97;111;97;97;97;97;97;97;97	ENSP00000354085:E97K;ENSP00000297183:E97K;ENSP00000394489:E97K;ENSP00000378212:E97K;ENSP00000421069:E97K;ENSP00000378211:E97K;ENSP00000432016:E97K	ENSP00000432016:E97K	E	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139762025	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.516000	0.67055	2.763000	0.94921	0.561000	0.74099	GAG	ANKHD1	-	NULL	ENSG00000131503		0.672	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	21	0.00	0	G	NM_017747		139781841	139781841	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	missense	2	66.67	4	SNP	1.000	A
ANKHD1	54882	genome.wustl.edu	37	5	139876234	139876234	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:139876234G>C	ENST00000360839.2	+	15	2529	c.2375G>C	c.(2374-2376)aGa>aCa	p.R792T	ANKHD1_ENST00000297183.6_Missense_Mutation_p.R792T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R792T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	792						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R792I(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGACAAAGAATTAGTGCT	0.413																																						dbGAP											2	Substitution - Missense(2)	prostate(2)											91.0	87.0	89.0					5																	139876234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2375G>C	5.37:g.139876234G>C	ENSP00000354085:p.Arg792Thr		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.R792T	ENST00000360839.2	37	c.2375	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	g	14.70	2.614902	0.46631	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.72615	-0.64;-0.67;-0.44;-0.67	5.76	4.9	0.64082	Ankyrin repeat-containing domain (1);	0.050531	0.85682	D	0.000000	T	0.80491	0.4633	M	0.61703	1.905	0.58432	D	0.999996	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.77557	0.99;0.977;0.977	T	0.77343	-0.2623	10	0.19590	T	0.45	.	15.0889	0.72177	0.068:0.0:0.932:0.0	.	792;792;792	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	T	792;825;792;792;326;811;792	ENSP00000354085:R792T;ENSP00000297183:R792T;ENSP00000394489:R811T;ENSP00000432016:R792T	ENSP00000432016:R792T	R	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.030000	0.88816	1.447000	0.47661	-0.196000	0.12772	AGA	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.413	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	54	0.00	0	G	NM_017747		139876234	139876234	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	C
AP2M1	1173	genome.wustl.edu	37	3	183898910	183898910	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:183898910G>T	ENST00000292807.5	+	7	751	c.603G>T	c.(601-603)gtG>gtT	p.V201V	AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.V199V|AP2M1_ENST00000439647.1_Silent_p.V199V|AP2M1_ENST00000411763.2_Silent_p.V226V	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	201	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGGGTGGTGATGAAGAGCT	0.547																																						dbGAP											0													149.0	158.0	155.0					3																	183898910		2101	4228	6329	-	-	-	SO:0001819	synonymous_variant	0			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.603G>T	3.37:g.183898910G>T			A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.V201	ENST00000292807.5	37	c.603	CCDS43177.1	3																																																																																			AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000161203		0.547	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	161	0.00	0	G	NM_004068		183898910	183898910	+1	no_errors	ENST00000292807	ensembl	human	known	69_37n	silent	29	57.35	39	SNP	1.000	T
AP4E1	23431	genome.wustl.edu	37	15	51242111	51242111	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:51242111A>G	ENST00000261842.5	+	12	1511	c.1405A>G	c.(1405-1407)Aac>Gac	p.N469D	AP4E1_ENST00000560508.1_Missense_Mutation_p.N394D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	469					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TATTCCCAATAACTTTCTGAG	0.343																																						dbGAP											0													178.0	164.0	169.0					15																	51242111		2196	4294	6490	-	-	-	SO:0001583	missense	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1405A>G	15.37:g.51242111A>G	ENSP00000261842:p.Asn469Asp		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.N469D	ENST00000261842.5	37	c.1405	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808554	0.70797	.	.	ENSG00000081014	ENST00000261842	T	0.25085	1.82	5.62	4.49	0.54785	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.186450	0.56097	D	0.000033	T	0.31918	0.0812	L	0.54323	1.7	0.49687	D	0.999817	P	0.44139	0.827	P	0.48270	0.572	T	0.04268	-1.0964	10	0.54805	T	0.06	-15.1424	10.5596	0.45138	0.9244:0.0:0.0756:0.0	.	469	Q9UPM8	AP4E1_HUMAN	D	469	ENSP00000261842:N469D	ENSP00000261842:N469D	N	+	1	0	AP4E1	49029403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.790000	0.62453	2.267000	0.75376	0.528000	0.53228	AAC	AP4E1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.343	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	149	0.00	0	A			51242111	51242111	+1	no_errors	ENST00000261842	ensembl	human	known	69_37n	missense	111	10.40	13	SNP	1.000	G
APBA1	320	genome.wustl.edu	37	9	72131547	72131547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:72131547G>A	ENST00000265381.4	-	2	802	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	194					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACGTGCTCCTGGAGGCCGCCG	0.687																																						dbGAP											0													26.0	26.0	26.0					9																	72131547		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.580C>T	9.37:g.72131547G>A	ENSP00000265381:p.Gln194*		O14914|O60570|Q5VYR8	Nonsense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.Q194*	ENST00000265381.4	37	c.580	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538746	0.85917	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.08	5.08	0.68730	.	0.142165	0.48767	D	0.000174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.8403	0.92182	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000265381:Q194X	Q	-	1	0	APBA1	71321367	1.000000	0.71417	0.949000	0.38748	0.234000	0.25298	4.449000	0.60034	2.532000	0.85374	0.561000	0.74099	CAG	APBA1	-	NULL	ENSG00000107282		0.687	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	29	0.00	0	G	NM_001163		72131547	72131547	-1	no_errors	ENST00000265381	ensembl	human	known	69_37n	nonsense	16	36.00	9	SNP	0.998	A
APBA2	321	genome.wustl.edu	37	15	29397633	29397633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:29397633G>T	ENST00000558402.1	+	12	2175	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	APBA2_ENST00000558330.1_Nonsense_Mutation_p.E514*|APBA2_ENST00000411764.1_Nonsense_Mutation_p.E514*|APBA2_ENST00000558259.1_Nonsense_Mutation_p.E526*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.E526*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	526	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCCTACCAGGAGTTCCTGCG	0.602																																						dbGAP											0													108.0	78.0	88.0					15																	29397633		2201	4300	6501	-	-	-	SO:0001587	stop_gained	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1576G>T	15.37:g.29397633G>T	ENSP00000453293:p.Glu526*		E9PGI4|O60571|Q5XKC0	Nonsense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.E526*	ENST00000558402.1	37	c.1576	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.357557	0.98235	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	.	.	.	4.32	3.38	0.38709	.	0.066711	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.4501	0.61165	0.0:0.1586:0.8414:0.0	.	.	.	.	X	514;526	.	ENSP00000219865:E526X	E	+	1	0	APBA2	27184925	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.269000	0.72558	1.102000	0.41551	0.561000	0.74099	GAG	APBA2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000034053		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	46	0.00	0	G	NM_005503		29397633	29397633	+1	no_errors	ENST00000558259	ensembl	human	known	69_37n	nonsense	9	65.52	19	SNP	1.000	T
APOA1	335	genome.wustl.edu	37	11	116706998	116706998	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:116706998C>G	ENST00000236850.4	-	4	695	c.330G>C	c.(328-330)atG>atC	p.M110I	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000359492.2_Missense_Mutation_p.M110I|APOA1_ENST00000375323.1_Missense_Mutation_p.M110I|APOA1_ENST00000375329.2_Missense_Mutation_p.M88I|APOA1_ENST00000375320.1_Missense_Mutation_p.M110I	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	110	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GATCCTTGCTCATCTCCTGCC	0.592																																						dbGAP											0													123.0	104.0	110.0					11																	116706998		2201	4292	6493	-	-	-	SO:0001583	missense	0			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.330G>C	11.37:g.116706998C>G	ENSP00000236850:p.Met110Ile		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.M110I	ENST00000236850.4	37	c.330	CCDS8378.1	11	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559958	0.45590	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45	5.29	4.37	0.52481	Apolipoprotein/apolipophorin (1);	0.257032	0.27048	U	0.021187	T	0.60405	0.2266	L	0.53671	1.685	0.40601	D	0.981583	B	0.12013	0.005	B	0.15870	0.014	T	0.56619	-0.7949	10	0.13470	T	0.59	-20.4567	15.4584	0.75333	0.0:0.8603:0.1397:0.0	.	110	P02647	APOA1_HUMAN	I	110;110;88;110;110	ENSP00000364469:M110I;ENSP00000352471:M110I;ENSP00000364478:M88I;ENSP00000364472:M110I;ENSP00000236850:M110I	ENSP00000236850:M110I	M	-	3	0	APOA1	116212208	0.856000	0.29760	0.459000	0.27081	0.941000	0.58515	1.075000	0.30716	1.197000	0.43143	0.561000	0.74099	ATG	APOA1	-	pfam_ApoA1_A4_E	ENSG00000118137		0.592	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2	83	0.00	0	C	NM_000039		116706998	116706998	-1	no_errors	ENST00000236850	ensembl	human	known	69_37n	missense	13	63.89	23	SNP	0.956	G
APPL1	26060	genome.wustl.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcafs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											125.0	119.0	121.0					3																	57276921		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.453delA	3.37:g.57276921delA	ENSP00000288266:p.Ser151fs		Q9P2B9	Frame_Shift_Del	DEL	pfam_PTyr_interaction_dom,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.R154fs	ENST00000288266.3	37	c.453	CCDS2882.1	3																																																																																			APPL1	-	NULL	ENSG00000157500		0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL1	HGNC	protein_coding	OTTHUMT00000258196.2	163	0.00	0	A	NM_012096		57276921	57276921	+1	no_errors	ENST00000288266	ensembl	human	known	69_37n	frame_shift_del	105	39.20	69	DEL	0.881	-
ARHGAP21	57584	genome.wustl.edu	37	10	24873956	24873956	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:24873956G>A	ENST00000396432.2	-	26	5748	c.5262C>T	c.(5260-5262)tcC>tcT	p.S1754S		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1753	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCTGTTTTTCGGATTCGCCTC	0.438																																						dbGAP											0													99.0	102.0	101.0					10																	24873956		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5262C>T	10.37:g.24873956G>A			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S1754	ENST00000396432.2	37	c.5262	CCDS7144.2	10																																																																																			ARHGAP21	-	NULL	ENSG00000107863		0.438	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	57	0.00	0	G	NM_020824		24873956	24873956	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	silent	26	48.00	24	SNP	0.000	A
ARHGAP12	94134	genome.wustl.edu	37	10	32197425	32197425	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:32197425G>A	ENST00000344936.2	-	3	593	c.359C>T	c.(358-360)tCg>tTg	p.S120L	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S120L|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S120L|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.S120L|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S120L	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	120					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AACAGATGACGATGGCTTTCC	0.423																																						dbGAP											0													102.0	99.0	100.0					10																	32197425		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.359C>T	10.37:g.32197425G>A	ENSP00000345808:p.Ser120Leu		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.S120L	ENST00000344936.2	37	c.359	CCDS7170.1	10	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325953	0.41197	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.09350	3.04;2.99;3.08;3.07;3.04	5.4	5.4	0.78164	.	0.354244	0.29948	N	0.010793	T	0.09113	0.0225	N	0.14661	0.345	0.33945	D	0.643676	P;P;P;P;P;P	0.46621	0.766;0.878;0.75;0.635;0.881;0.779	B;B;B;B;B;B	0.40477	0.239;0.307;0.199;0.098;0.177;0.33	T	0.11012	-1.0605	10	0.44086	T	0.13	.	19.5546	0.95338	0.0:0.0:1.0:0.0	.	120;120;120;120;120;120	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	L	120	ENSP00000310984:S120L;ENSP00000364399:S120L;ENSP00000345808:S120L;ENSP00000379448:S120L;ENSP00000364394:S120L	ENSP00000310984:S120L	S	-	2	0	ARHGAP12	32237431	1.000000	0.71417	0.082000	0.20525	0.285000	0.27093	6.553000	0.73918	2.702000	0.92279	0.650000	0.86243	TCG	ARHGAP12	-	NULL	ENSG00000165322		0.423	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	82	0.00	0	G			32197425	32197425	-1	no_errors	ENST00000344936	ensembl	human	known	69_37n	missense	32	46.67	28	SNP	0.726	A
ARHGAP6	395	genome.wustl.edu	37	X	11682550	11682550	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:11682550C>G	ENST00000337414.4	-	1	1271	c.399G>C	c.(397-399)aaG>aaC	p.K133N	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.K133N|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.K133N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	133					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGCCATGCTCTTCTTGAGGC	0.632																																						dbGAP											0													25.0	27.0	26.0					X																	11682550		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.399G>C	X.37:g.11682550C>G	ENSP00000338967:p.Lys133Asn		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K133N	ENST00000337414.4	37	c.399	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345655	0.41498	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.26373	1.89;1.78;1.74	4.44	0.734	0.18294	.	0.235047	0.20758	U	0.086214	T	0.14313	0.0346	N	0.14661	0.345	0.80722	D	1	P;P	0.37781	0.59;0.608	B;B	0.38803	0.282;0.193	T	0.06844	-1.0804	10	0.66056	D	0.02	.	7.8485	0.29440	0.0:0.6217:0.0:0.3783	.	133;133	O43182-2;O43182	.;RHG06_HUMAN	N	133	ENSP00000338967:K133N;ENSP00000370094:K133N;ENSP00000370108:K133N	ENSP00000338967:K133N	K	-	3	2	ARHGAP6	11592471	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	1.360000	0.34125	-0.175000	0.10725	-0.190000	0.12839	AAG	ARHGAP6	-	NULL	ENSG00000047648		0.632	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	55	0.00	0	C	NM_013427		11682550	11682550	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	1.000	G
ARHGEF1	9138	genome.wustl.edu	37	19	42409363	42409363	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:42409363G>A	ENST00000354532.3	+	24	2434	c.2286G>A	c.(2284-2286)ctG>ctA	p.L762L	ARHGEF1_ENST00000337665.4_Silent_p.L777L|ARHGEF1_ENST00000599846.1_Silent_p.L818L|ARHGEF1_ENST00000378152.4_Silent_p.L744L|ARHGEF1_ENST00000347545.4_Silent_p.L729L	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	762					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGGATCCCTGAAAGTCCCTG	0.667																																						dbGAP											0													54.0	53.0	54.0					19																	42409363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2286G>A	19.37:g.42409363G>A			O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L744	ENST00000354532.3	37	c.2232	CCDS12591.1	19																																																																																			ARHGEF1	-	smart_Pleckstrin_homology	ENSG00000076928		0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	54	0.00	0	G	NM_199002		42409363	42409363	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	silent	33	41.07	23	SNP	1.000	A
ARMC3	219681	genome.wustl.edu	37	10	23287250	23287250	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:23287250C>T	ENST00000298032.5	+	11	1433	c.1349C>T	c.(1348-1350)tCt>tTt	p.S450F	ARMC3_ENST00000376528.4_Missense_Mutation_p.S187F|ARMC3_ENST00000409983.3_Missense_Mutation_p.S450F|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409049.3_Missense_Mutation_p.S450F	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	450						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACTGCGTTCTGCAAACACA	0.507																																						dbGAP											0													65.0	58.0	60.0					10																	23287250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1349C>T	10.37:g.23287250C>T	ENSP00000298032:p.Ser450Phe		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S450F	ENST00000298032.5	37	c.1349	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941852	0.73557	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.68903	-0.36;-0.36;1.35;0.51	5.44	3.44	0.39384	Armadillo-like helical (1);Armadillo-type fold (1);	0.439500	0.25561	N	0.029839	T	0.80523	0.4639	M	0.81942	2.565	0.30331	N	0.786689	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.976	T	0.79512	-0.1773	10	0.87932	D	0	-4.6626	12.1313	0.53944	0.1357:0.7338:0.1305:0.0	.	450;450	Q5W041-4;Q5W041	.;ARMC3_HUMAN	F	450;450;386;450;187	ENSP00000298032:S450F;ENSP00000386943:S450F;ENSP00000387288:S450F;ENSP00000365711:S187F	ENSP00000298032:S450F	S	+	2	0	ARMC3	23327256	0.995000	0.38212	0.005000	0.12908	0.244000	0.25665	3.670000	0.54569	1.233000	0.43693	0.467000	0.42956	TCT	ARMC3	-	superfamily_ARM-type_fold	ENSG00000165309		0.507	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	71	0.00	0	C	NM_173081		23287250	23287250	+1	no_errors	ENST00000298032	ensembl	human	known	69_37n	missense	25	60.94	39	SNP	0.205	T
ARMC5	79798	genome.wustl.edu	37	16	31477928	31477928	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:31477928C>A	ENST00000563544.1	+	7	3072	c.2526C>A	c.(2524-2526)ttC>ttA	p.F842L	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.F937L|ARMC5_ENST00000268314.4_Missense_Mutation_p.F842L|ARMC5_ENST00000538189.1_Missense_Mutation_p.F874L|ARMC5_ENST00000412665.2_Missense_Mutation_p.F486L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	842										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGGCCGTTTCCTACTGCCTG	0.716																																						dbGAP											0													14.0	20.0	18.0					16																	31477928		2153	4262	6415	-	-	-	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2526C>A	16.37:g.31477928C>A	ENSP00000456877:p.Phe842Leu		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.F937L	ENST00000563544.1	37	c.2811	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476981	0.44044	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.95	1.75	0.24633	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	N	0.19112	0.55	0.25638	N	0.986238	D;D;D;D	0.71674	0.998;0.994;0.994;0.994	P;P;P;P	0.61397	0.888;0.888;0.888;0.888	T	0.49835	-0.8897	10	0.72032	D	0.01	-30.8661	8.0062	0.30325	0.0:0.7023:0.0:0.2977	.	874;874;937;842	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	L	937;874;842;486	ENSP00000386125:F937L;ENSP00000443995:F874L;ENSP00000268314:F842L;ENSP00000400183:F486L	ENSP00000268314:F842L	F	+	3	2	ARMC5	31385429	0.001000	0.12720	1.000000	0.80357	0.196000	0.23810	-0.070000	0.11523	0.687000	0.31509	0.297000	0.19635	TTC	ARMC5	-	superfamily_BTB/POZ_fold	ENSG00000140691		0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	41	0.00	0	C	NM_024742		31477928	31477928	+1	no_errors	ENST00000408912	ensembl	human	known	69_37n	missense	12	27.78	5	SNP	1.000	A
ARMCX6	54470	genome.wustl.edu	37	X	100871481	100871481	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:100871481C>G	ENST00000361910.4	-	3	474	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.E44Q|ARMCX6_ENST00000539247.1_Missense_Mutation_p.E44Q	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	44						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						tcgtcccactcctcttccccc	0.542																																						dbGAP											0													91.0	83.0	86.0					X																	100871481		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.130G>C	X.37:g.100871481C>G	ENSP00000354708:p.Glu44Gln		Q9NWJ3	Missense_Mutation	SNP	pfam_ARM-rpt_dom	p.E44Q	ENST00000361910.4	37	c.130	CCDS14488.1	X	.	.	.	.	.	.	.	.	.	.	.	11.91	1.780999	0.31502	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.52983	0.64;0.64;0.64	3.54	3.54	0.40534	.	0.000000	0.43110	D	0.000615	T	0.41143	0.1146	L	0.36672	1.1	0.27298	N	0.957666	D	0.61080	0.989	P	0.49665	0.618	T	0.18999	-1.0319	10	0.20519	T	0.43	-10.6851	9.7317	0.40366	0.0:1.0:0.0:0.0	.	44	Q7L4S7	ARMX6_HUMAN	Q	44	ENSP00000354708:E44Q;ENSP00000444537:E44Q;ENSP00000440648:E44Q	ENSP00000354708:E44Q	E	-	1	0	ARMCX6	100758137	1.000000	0.71417	0.989000	0.46669	0.351000	0.29236	3.015000	0.49599	2.043000	0.60533	0.472000	0.43445	GAG	ARMCX6	-	NULL	ENSG00000198960		0.542	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX6	HGNC	protein_coding	OTTHUMT00000057562.1	187	0.00	0	C	NM_019007		100871481	100871481	-1	no_errors	ENST00000361910	ensembl	human	known	69_37n	missense	43	53.26	49	SNP	0.988	G
ARSK	153642	genome.wustl.edu	37	5	94927253	94927253	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:94927253G>A	ENST00000380009.4	+	6	1225	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	340					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CGCTTTTGATGATGGGACCAG	0.418																																						dbGAP											0													226.0	234.0	231.0					5																	94927253		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1020G>A	5.37:g.94927253G>A	ENSP00000369346:p.Met340Ile		A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.M340I	ENST00000380009.4	37	c.1020	CCDS4073.1	5	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.278291	0.01410	.	.	ENSG00000164291	ENST00000380009	D	0.98075	-4.7	5.63	-7.73	0.01245	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.560953	0.21461	N	0.074173	D	0.84946	0.5585	N	0.02775	-0.495	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.76033	-0.3107	10	0.02654	T	1	-0.3909	3.7068	0.08404	0.3867:0.3133:0.2186:0.0814	.	340	Q6UWY0	ARSK_HUMAN	I	340	ENSP00000369346:M340I	ENSP00000369346:M340I	M	+	3	0	ARSK	94953009	0.013000	0.17824	0.135000	0.22099	0.220000	0.24768	-0.940000	0.03929	-2.350000	0.00617	-0.947000	0.02670	ATG	ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000164291		0.418	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	142	0.00	0	G	NM_198150		94927253	94927253	+1	no_errors	ENST00000380009	ensembl	human	known	69_37n	missense	112	30.00	48	SNP	0.079	A
ASXL1	171023	genome.wustl.edu	37	20	31024523	31024523	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:31024523G>A	ENST00000375687.4	+	13	4432	c.4008G>A	c.(4006-4008)ggG>ggA	p.G1336G	ASXL1_ENST00000306058.5_Silent_p.G1331G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1336					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTCCCAGTGGGAAGTTGGGAC	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													45.0	48.0	47.0					20																	31024523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4008G>A	20.37:g.31024523G>A			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.G1336	ENST00000375687.4	37	c.4008	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	30	0.00	0	G	NM_015338		31024523	31024523	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	silent	19	29.63	8	SNP	0.885	A
ATP13A1	57130	genome.wustl.edu	37	19	19767527	19767527	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:19767527C>T	ENST00000357324.6	-	7	1051	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R224Q|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	342						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCAGCGGCCTCGCAGCAGAAG	0.647																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	dbGAP											0													57.0	52.0	53.0					19																	19767527		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1025G>A	19.37:g.19767527C>T	ENSP00000349877:p.Arg342Gln		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.R342Q	ENST00000357324.6	37	c.1025	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854420	0.91355	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.90197	-2.63;-2.63	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	M	0.66939	2.045	0.80722	D	1	P;P	0.47841	0.853;0.901	B;B	0.35859	0.19;0.212	D	0.87938	0.2715	10	0.34782	T	0.22	-22.6885	15.9147	0.79503	0.0:1.0:0.0:0.0	.	342;224	Q9HD20;Q9HD20-2	AT131_HUMAN;.	Q	224;342	ENSP00000291503:R224Q;ENSP00000349877:R342Q	ENSP00000291503:R224Q	R	-	2	0	ATP13A1	19628527	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	7.661000	0.83786	2.413000	0.81919	0.563000	0.77884	CGA	ATP13A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000105726		0.647	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	54	0.00	0	C	NM_020410		19767527	19767527	-1	no_errors	ENST00000357324	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	0.998	T
ATP2C2	9914	genome.wustl.edu	37	16	84474522	84474522	+	Silent	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:84474522C>A	ENST00000262429.4	+	14	1358	c.1269C>A	c.(1267-1269)gtC>gtA	p.V423V	ATP2C2_ENST00000416219.2_Silent_p.V423V|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	423					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCAAGGAAGTCATTAAGGAAT	0.498																																						dbGAP											0													103.0	108.0	106.0					16																	84474522		1976	4161	6137	-	-	-	SO:0001819	synonymous_variant	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1269C>A	16.37:g.84474522C>A			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.V423	ENST00000262429.4	37	c.1269	CCDS42207.1	16																																																																																			ATP2C2	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000064270		0.498	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	151	0.00	0	C	NM_014861		84474522	84474522	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	silent	55	50.00	55	SNP	0.000	A
ATP6V0A1	535	genome.wustl.edu	37	17	40647143	40647143	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:40647143C>T	ENST00000343619.4	+	13	1529	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S426F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S115F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S469F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S426F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S476F|MIR548AT_ENST00000578714.1_RNA|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S469F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	469					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GATTGCTTTTCCAAGTCTCTT	0.398																																						dbGAP											0													269.0	247.0	254.0					17																	40647143		2203	4300	6503	-	-	-	SO:0001583	missense	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1406C>T	17.37:g.40647143C>T	ENSP00000342951:p.Ser469Phe		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.S476F	ENST00000343619.4	37	c.1427	CCDS45684.1	17	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871798	0.91587	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.74	4.74	0.60224	.	0.096970	0.64402	D	0.000001	D	0.97049	0.9036	H	0.97465	4.01	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.996;0.996;0.96;0.977	D;D;D;P;D	0.72982	0.971;0.971;0.979;0.748;0.924	D	0.98169	1.0451	10	0.87932	D	0	-21.4582	16.8112	0.85720	0.0:0.8717:0.1283:0.0	.	426;426;476;469;469	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	F	469;469;469;476;426;115	ENSP00000342951:S469F;ENSP00000444676:S469F;ENSP00000377415:S469F;ENSP00000264649:S476F;ENSP00000443991:S426F;ENSP00000446377:S115F	ENSP00000264649:S476F	S	+	2	0	ATP6V0A1	37900669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.066000	0.71185	2.715000	0.92844	0.655000	0.94253	TCC	ATP6V0A1	-	pfam_ATPase_V0/A0_a	ENSG00000033627		0.398	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	158	0.00	0	C	NM_001130020		40647143	40647143	+1	no_errors	ENST00000264649	ensembl	human	known	69_37n	missense	93	40.00	62	SNP	1.000	T
ATRIP	84126	genome.wustl.edu	37	3	48501834	48501834	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:48501834G>C	ENST00000320211.3	+	8	1494	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	ATRIP_ENST00000412052.1_Missense_Mutation_p.E368Q|ATRIP_ENST00000357105.6_Missense_Mutation_p.E334Q|ATRIP_ENST00000346691.4_Missense_Mutation_p.E461Q	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	461					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGGGGTAGAGACCAACCC	0.592								Other conserved DNA damage response genes																														dbGAP											0													95.0	95.0	95.0					3																	48501834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1381G>C	3.37:g.48501834G>C	ENSP00000323099:p.Glu461Gln		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.E461Q	ENST00000320211.3	37	c.1381	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750582	0.31046	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.46451	1.44;1.44;0.87;1.45	5.65	4.72	0.59763	.	0.393064	0.28577	N	0.014860	T	0.59348	0.2187	L	0.60455	1.87	0.29219	N	0.874048	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.54357	-0.8306	9	.	.	.	-17.7116	14.1192	0.65175	0.0:0.1514:0.8485:0.0	.	461;461	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	Q	461;461;334;368	ENSP00000323099:E461Q;ENSP00000302338:E461Q;ENSP00000349620:E334Q;ENSP00000400930:E368Q	.	E	+	1	0	ATRIP	48476838	0.976000	0.34144	0.980000	0.43619	0.291000	0.27294	2.760000	0.47581	2.824000	0.97209	0.655000	0.94253	GAG	ATRIP	-	NULL	ENSG00000164053		0.592	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	75	0.00	0	G	NM_130384		48501834	48501834	+1	no_errors	ENST00000320211	ensembl	human	known	69_37n	missense	31	42.59	23	SNP	0.903	C
AVL9	23080	genome.wustl.edu	37	7	32588492	32588492	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:32588492G>A	ENST00000318709.4	+	4	555	c.334G>A	c.(334-336)Gag>Aag	p.E112K	AVL9_ENST00000409301.1_Missense_Mutation_p.E112K|AVL9_ENST00000404479.1_Missense_Mutation_p.E112K	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	112					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TATCACCAGAGAGACTGTTCA	0.333																																						dbGAP											0													127.0	114.0	119.0					7																	32588492		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.334G>A	7.37:g.32588492G>A	ENSP00000315568:p.Glu112Lys		Q92573	Missense_Mutation	SNP	pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347	p.E112K	ENST00000318709.4	37	c.334	CCDS34613.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030965	0.93575	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.975;0.987	T	0.62737	-0.6791	10	0.52906	T	0.07	-19.465	19.9069	0.97012	0.0:0.0:1.0:0.0	.	112;112	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	K	112;112;112;112;43	ENSP00000315568:E112K;ENSP00000387011:E112K;ENSP00000385242:E112K;ENSP00000395134:E43K	ENSP00000315568:E112K	E	+	1	0	AVL9	32555017	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.461000	0.97646	2.718000	0.92993	0.585000	0.79938	GAG	AVL9	-	pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347	ENSG00000105778		0.333	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	69	0.00	0	G	NM_015060		32588492	32588492	+1	no_errors	ENST00000404479	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	1.000	A
BBS9	27241	genome.wustl.edu	37	7	33388707	33388707	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:33388707C>G	ENST00000242067.6	+	13	1878	c.1357C>G	c.(1357-1359)Caa>Gaa	p.Q453E	BBS9_ENST00000350941.3_Missense_Mutation_p.Q453E|BBS9_ENST00000354265.4_Missense_Mutation_p.Q453E|BBS9_ENST00000396127.2_Missense_Mutation_p.Q453E|BBS9_ENST00000355070.2_Missense_Mutation_p.Q453E	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	453					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGTGATATTGCAAAAAGCCAA	0.323									Bardet-Biedl syndrome																													dbGAP											0													182.0	160.0	168.0					7																	33388707		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1357C>G	7.37:g.33388707C>G	ENSP00000242067:p.Gln453Glu		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.Q453E	ENST00000242067.6	37	c.1357	CCDS43566.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.530|4.530	0.098408|0.098408	0.08681|0.08681	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000434373|ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	.|T;T;T;T;T	.|0.56444	.|3.05;0.46;0.56;3.05;3.05	5.41|5.41	4.47|4.47	0.54385|0.54385	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38241|0.38241	0.1033|0.1033	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.13145	.|0.002;0.002;0.002;0.007	.|B;B;B;B	.|0.21708	.|0.012;0.01;0.016;0.036	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.07030	.|T	.|0.85	-6.7984|-6.7984	12.9315|12.9315	0.58290|0.58290	0.1619:0.838:0.0:0.0|0.1619:0.838:0.0:0.0	.|.	.|453;453;453;453	.|Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.|.;.;.;PTHB1_HUMAN	G|E	19|453;453;453;453;453;453;453;331	.|ENSP00000242067:Q453E;ENSP00000313122:Q453E;ENSP00000379433:Q453E;ENSP00000347182:Q453E;ENSP00000346214:Q453E	.|ENSP00000242067:Q453E	A|Q	+|+	2|1	0|0	BBS9|BBS9	33355232|33355232	0.994000|0.994000	0.37717|0.37717	0.970000|0.970000	0.41538|0.41538	0.134000|0.134000	0.20937|0.20937	2.699000|2.699000	0.47077|0.47077	2.530000|2.530000	0.85305|0.85305	0.585000|0.585000	0.79938|0.79938	GCA|CAA	BBS9	-	NULL	ENSG00000122507		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	143	0.00	0	C			33388707	33388707	+1	no_errors	ENST00000242067	ensembl	human	known	69_37n	missense	117	37.10	69	SNP	0.868	G
BCAP31	10134	genome.wustl.edu	37	X	152969538	152969538	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:152969538C>T	ENST00000345046.6	-	5	760	c.353G>A	c.(352-354)cGc>cAc	p.R118H	BCAP31_ENST00000441714.1_Missense_Mutation_p.R118H|BCAP31_ENST00000458587.2_Missense_Mutation_p.R185H	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	118					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCACCAGGCGTCTAAGCAG	0.532																																						dbGAP											0													54.0	46.0	49.0					X																	152969538		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.353G>A	X.37:g.152969538C>T	ENSP00000343458:p.Arg118His		B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	pfam_Bap31	p.R185H	ENST00000345046.6	37	c.554	CCDS14727.1	X	.	.	.	.	.	.	.	.	.	.	c	29.7	5.031859	0.93575	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.25	5.25	0.73442	.	0.166180	0.53938	D	0.000057	D	0.84469	0.5479	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.78314	0.87;0.991	D	0.87606	0.2500	9	0.87932	D	0	-9.9866	16.5576	0.84490	0.0:1.0:0.0:0.0	.	118;185	P51572;B3KQ79	BAP31_HUMAN;.	H	118;118;185;185;118;118;118;118;118	.	ENSP00000343458:R118H	R	-	2	0	BCAP31	152622732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.180000	0.77674	2.432000	0.82394	0.597000	0.82753	CGC	BCAP31	-	pfam_Bap31	ENSG00000185825		0.532	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	73	0.00	0	C	NM_005745		152969538	152969538	-1	no_errors	ENST00000458587	ensembl	human	known	69_37n	missense	25	46.81	22	SNP	1.000	T
BICC1	80114	genome.wustl.edu	37	10	60549085	60549085	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:60549085G>A	ENST00000373886.3	+	7	668	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	222					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACCGGTTCCTGATCCTAATTC	0.403																																						dbGAP											0													147.0	138.0	141.0					10																	60549085		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.664G>A	10.37:g.60549085G>A	ENSP00000362993:p.Asp222Asn			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.D222N	ENST00000373886.3	37	c.664	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626753	0.87560	.	.	ENSG00000122870	ENST00000373886	T	0.29655	1.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.74647	2.275	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.53760	-0.8393	10	0.48119	T	0.1	-19.8189	19.756	0.96291	0.0:0.0:1.0:0.0	.	222	Q9H694	BICC1_HUMAN	N	222	ENSP00000362993:D222N	ENSP00000362993:D222N	D	+	1	0	BICC1	60219091	1.000000	0.71417	0.954000	0.39281	0.915000	0.54546	9.575000	0.98187	2.665000	0.90641	0.655000	0.94253	GAT	BICC1	-	NULL	ENSG00000122870		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	116	0.00	0	G	NM_025044		60549085	60549085	+1	no_errors	ENST00000373886	ensembl	human	known	69_37n	missense	44	52.69	49	SNP	1.000	A
BRD3	8019	genome.wustl.edu	37	9	136901437	136901437	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:136901437C>T	ENST00000303407.7	-	10	1838	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	551	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGCCGCCTTTCTTCAGCTGTC	0.602			T	C15orf55	lethal midline carcinoma of young people																																	dbGAP		Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													53.0	50.0	51.0					9																	136901437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1653G>A	9.37:g.136901437C>T			B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K551	ENST00000303407.7	37	c.1653	CCDS6980.1	9																																																																																			BRD3	-	NULL	ENSG00000169925		0.602	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	60	0.00	0	C	NM_007371		136901437	136901437	-1	no_errors	ENST00000303407	ensembl	human	known	69_37n	silent	33	35.29	18	SNP	1.000	T
BRF1	2972	genome.wustl.edu	37	14	105707730	105707730	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:105707730C>T	ENST00000546474.1	-	6	15525	c.566G>A	c.(565-567)cGc>cAc	p.R189H	BRF1_ENST00000379937.2_Missense_Mutation_p.R162H|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.R74H|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.R74H	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	189					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTGCGCAAAGCGTGGAATATA	0.627																																						dbGAP											0													93.0	76.0	82.0					14																	105707730		2200	4300	6500	-	-	-	SO:0001583	missense	0			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.566G>A	14.37:g.105707730C>T	ENSP00000448323:p.Arg189His		B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB,pfscan_Znf_TFIIB	p.R189H	ENST00000546474.1	37	c.566	CCDS10001.1	14	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655989	0.67586	.	.	ENSG00000185024	ENST00000379937;ENST00000546474;ENST00000327359;ENST00000440513	.	.	.	4.51	4.51	0.55191	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.82068	-0.0640	9	0.38643	T	0.18	.	15.0683	0.72014	0.0:1.0:0.0:0.0	.	74;162;189	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	H	162;189;74;74	.	ENSP00000329029:R74H	R	-	2	0	BRF1	104778775	1.000000	0.71417	0.948000	0.38648	0.115000	0.19883	7.254000	0.78329	2.220000	0.72140	0.591000	0.81541	CGC	BRF1	-	pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000185024		0.627	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF1	HGNC	protein_coding	OTTHUMT00000074548.4	65	0.00	0	C	NM_001519		105707730	105707730	-1	no_errors	ENST00000546474	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.999	T
BRSK2	9024	genome.wustl.edu	37	11	1462075	1462075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:1462075delG	ENST00000528841.1	+	4	714	c.330delG	c.(328-330)aagfs	p.K110fs	BRSK2_ENST00000526678.1_Frame_Shift_Del_p.K110fs|BRSK2_ENST00000308219.9_Frame_Shift_Del_p.K110fs|BRSK2_ENST00000382179.1_Frame_Shift_Del_p.K156fs|BRSK2_ENST00000308230.5_Frame_Shift_Del_p.K110fs|BRSK2_ENST00000528710.1_Frame_Shift_Del_p.K50fs|BRSK2_ENST00000531197.1_Frame_Shift_Del_p.K110fs|BRSK2_ENST00000544817.1_5'Flank			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGTGAAGAAGGGGAGGCTGA	0.622																																						dbGAP											0													36.0	42.0	40.0					11																	1462075		2195	4292	6487	-	-	-	SO:0001589	frameshift_variant	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.330delG	11.37:g.1462075delG	ENSP00000432000:p.Lys110fs		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R158fs	ENST00000528841.1	37	c.468	CCDS58107.1	11																																																																																			BRSK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000174672		0.622	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	36	0.00	0	G	NM_003957		1462075	1462075	+1	no_errors	ENST00000382179	ensembl	human	known	69_37n	frame_shift_del	15	48.39	15	DEL	0.999	-
BSN	8927	genome.wustl.edu	37	3	49692119	49692119	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:49692119C>T	ENST00000296452.4	+	5	5244	c.5130C>T	c.(5128-5130)gcC>gcT	p.A1710A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1710					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGTCGACCGCCGTGCAGCCCT	0.577																																						dbGAP											0													126.0	119.0	121.0					3																	49692119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5130C>T	3.37:g.49692119C>T			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.A1710	ENST00000296452.4	37	c.5130	CCDS2800.1	3																																																																																			BSN	-	NULL	ENSG00000164061		0.577	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	54	0.00	0	C	NM_003458		49692119	49692119	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	0.343	T
BUB1	699	genome.wustl.edu	37	2	111416320	111416320	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:111416320C>A	ENST00000302759.6	-	12	1395		c.e12-1		BUB1_ENST00000535254.1_Splice_Site|BUB1_ENST00000409311.1_Splice_Site	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTTCACACCCTAGCAAAGAA	0.383																																						dbGAP											0													153.0	133.0	140.0					2																	111416320		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1277-1G>T	2.37:g.111416320C>A			E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Splice_Site	SNP	-	e12-1	ENST00000302759.6	37	c.1277-1	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797588	0.31777	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	.	.	.	6.07	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.852	0.52417	0.1741:0.8259:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUB1	111132793	0.322000	0.24634	0.276000	0.24689	0.023000	0.10783	1.545000	0.36169	2.890000	0.99128	0.650000	0.86243	.	BUB1	-	-	ENSG00000169679		0.383	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	173	0.57	1	C	NM_004336	Intron	111416320	111416320	-1	no_errors	ENST00000302759	ensembl	human	known	69_37n	splice_site	131	37.91	80	SNP	0.337	A
BUD13	84811	genome.wustl.edu	37	11	116633763	116633763	+	Missense_Mutation	SNP	C	C	T	rs117864209	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:116633763C>T	ENST00000260210.4	-	4	565	c.542G>A	c.(541-543)cGt>cAt	p.R181H	BUD13_ENST00000375445.3_Missense_Mutation_p.R181H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	181	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGAGTCATGACGGATCCTCCT	0.582													C|||	4	0.000798722	0.0	0.0	5008	,	,		15383	0.004		0.0	False		,,,				2504	0.0					dbGAP											0													104.0	111.0	109.0					11																	116633763		2201	4296	6497	-	-	-	SO:0001583	missense	0			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.542G>A	11.37:g.116633763C>T	ENSP00000260210:p.Arg181His		A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.R181H	ENST00000260210.4	37	c.542	CCDS8374.1	11	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	11.27	1.588080	0.28268	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.26223	1.82;1.75	5.08	1.14	0.20703	.	0.195821	0.53938	N	0.000053	T	0.15912	0.0383	L	0.53729	1.69	0.53688	D	0.999976	B;B;B	0.26902	0.163;0.038;0.095	B;B;B	0.16289	0.015;0.015;0.015	T	0.05989	-1.0852	10	0.87932	D	0	-0.0623	10.3575	0.43974	0.0:0.7518:0.0:0.2482	.	181;181;181	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	H	181	ENSP00000364594:R181H;ENSP00000260210:R181H	ENSP00000260210:R181H	R	-	2	0	BUD13	116138973	0.616000	0.27035	0.378000	0.26068	0.123000	0.20343	1.627000	0.37050	0.053000	0.16036	0.655000	0.94253	CGT	BUD13	-	NULL	ENSG00000137656		0.582	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	35	0.00	0	C	NM_032725		116633763	116633763	-1	no_errors	ENST00000260210	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.959	T
C16orf59	80178	genome.wustl.edu	37	16	2510820	2510820	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:2510820G>A	ENST00000361837.4	+	4	265	c.200G>A	c.(199-201)tGc>tAc	p.C67Y	RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000563531.1_Missense_Mutation_p.C67Y|C16orf59_ENST00000569496.1_Missense_Mutation_p.C67Y|C16orf59_ENST00000483320.1_5'UTR	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	67										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TTCACAGCATGCACACCCAGT	0.562																																						dbGAP											0													76.0	83.0	81.0					16																	2510820		2081	4225	6306	-	-	-	SO:0001583	missense	0			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.200G>A	16.37:g.2510820G>A	ENSP00000355022:p.Cys67Tyr		B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	NULL	p.C67Y	ENST00000361837.4	37	c.200	CCDS10468.2	16	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093445	0.56075	.	.	ENSG00000162062	ENST00000361837	T	0.56275	0.47	4.59	1.5	0.22942	.	0.234452	0.21845	U	0.068270	T	0.43787	0.1263	M	0.61703	1.905	0.80722	D	1	B	0.14012	0.009	B	0.17433	0.018	T	0.40270	-0.9572	10	0.54805	T	0.06	-4.3863	4.1896	0.10414	0.2085:0.1937:0.5979:0.0	.	67	Q7L2K0	CP059_HUMAN	Y	67	ENSP00000355022:C67Y	ENSP00000355022:C67Y	C	+	2	0	C16orf59	2450821	0.000000	0.05858	0.003000	0.11579	0.268000	0.26511	0.657000	0.24963	0.643000	0.30638	0.655000	0.94253	TGC	C16orf59	-	NULL	ENSG00000162062		0.562	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf59	HGNC	protein_coding	OTTHUMT00000250802.3	35	0.00	0	G	NM_025108		2510820	2510820	+1	no_errors	ENST00000361837	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.002	A
C20orf194	25943	genome.wustl.edu	37	20	3274894	3274894	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:3274894T>C	ENST00000252032.9	-	25	2196	c.2129A>G	c.(2128-2130)cAg>cGg	p.Q710R	C20orf194_ENST00000498079.1_5'Flank|C20orf194_ENST00000453730.2_Missense_Mutation_p.Q448R	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	710										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGCGAAATGCTGGAGAAACCT	0.438																																						dbGAP											0													66.0	63.0	64.0					20																	3274894		1953	4161	6114	-	-	-	SO:0001583	missense	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2129A>G	20.37:g.3274894T>C	ENSP00000252032:p.Gln710Arg		Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.Q710R	ENST00000252032.9	37	c.2129	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386628	0.61956	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34667	2.14;1.35	5.71	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.62723	1.935	0.53688	D	0.99997	D;D	0.63046	0.992;0.992	D;D	0.72982	0.979;0.979	T	0.48387	-0.9040	10	0.37606	T	0.19	.	8.8907	0.35432	0.0:0.085:0.0:0.915	.	449;710	Q0IIP3;Q5TEA3	.;CT194_HUMAN	R	710;448	ENSP00000252032:Q710R;ENSP00000407229:Q448R	ENSP00000252032:Q710R	Q	-	2	0	C20orf194	3222894	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.489000	0.45285	2.187000	0.69744	0.533000	0.62120	CAG	C20orf194	-	NULL	ENSG00000088854		0.438	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	68	0.00	0	T	NM_001009984		3274894	3274894	-1	no_errors	ENST00000252032	ensembl	human	known	69_37n	missense	66	19.28	16	SNP	1.000	C
C2orf42	54980	genome.wustl.edu	37	2	70377535	70377535	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:70377535C>G	ENST00000264434.2	-	10	2057	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	C2orf42_ENST00000420306.1_Missense_Mutation_p.D560H	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	560										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AAGGGCTGGTCCAAGGGGGGC	0.517																																						dbGAP											0													74.0	82.0	79.0					2																	70377535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1678G>C	2.37:g.70377535C>G	ENSP00000264434:p.Asp560His		D6W5G3|Q9H629	Missense_Mutation	SNP	NULL	p.D560H	ENST00000264434.2	37	c.1678	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855593	0.51376	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	T;T	0.49432	0.78;0.78	5.8	5.8	0.92144	.	0.372639	0.25386	N	0.031059	T	0.35189	0.0923	N	0.08118	0	0.32595	N	0.526645	P	0.35656	0.514	B	0.38056	0.264	T	0.51276	-0.8726	10	0.66056	D	0.02	-2.3426	18.6331	0.91368	0.0:1.0:0.0:0.0	.	560	Q9NWW7	CB042_HUMAN	H	560	ENSP00000264434:D560H;ENSP00000404515:D560H	ENSP00000264434:D560H	D	-	1	0	C2orf42	70231039	0.974000	0.33945	0.934000	0.37439	0.756000	0.42949	3.567000	0.53813	2.758000	0.94735	0.563000	0.77884	GAC	C2orf42	-	NULL	ENSG00000115998		0.517	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	50	0.00	0	C	NM_017880		70377535	70377535	-1	no_errors	ENST00000264434	ensembl	human	known	69_37n	missense	31	31.11	14	SNP	0.988	G
C7orf61	402573	genome.wustl.edu	37	7	100054424	100054425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:100054424_100054425insG	ENST00000332375.3	-	3	816_817	c.571_572insC	c.(571-573)cgafs	p.R191fs		NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	191						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						CGGGTTGGGTCGGGGGGCAGCA	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.572dupC	7.37:g.100054430_100054430dupG	ENSP00000327732:p.Arg191fs			Frame_Shift_Ins	INS	NULL	p.R191fs	ENST00000332375.3	37	c.572_571	CCDS47661.1	7																																																																																			C7orf61	-	NULL	ENSG00000185955		0.644	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf61	HGNC	protein_coding	OTTHUMT00000316976.2	68	0.00	0	-	NM_001004323		100054424	100054425	-1	no_errors	ENST00000332375	ensembl	human	known	69_37n	frame_shift_ins	19	24.00	6	INS	0.001:0.050	G
CFAP69	79846	genome.wustl.edu	37	7	89933286	89933287	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:89933286_89933287insA	ENST00000389297.4	+	18	2305_2306	c.2054_2055insA	c.(2053-2058)acaaaafs	p.TK685fs	C7orf63_ENST00000497910.1_Frame_Shift_Ins_p.TK667fs|C7orf63_ENST00000316089.8_Intron	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		685										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGATTAGATACAAAAAAACCTC	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000389297.4:c.2061dupA	7.37:g.89933293_89933293dupA	ENSP00000373948:p.Thr685fs		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.P688fs	ENST00000389297.4	37	c.2054_2055	CCDS43613.2	7																																																																																			C7orf63	-	NULL	ENSG00000105792		0.307	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	83	0.00	0	-			89933286	89933287	+1	no_errors	ENST00000389297	ensembl	human	known	69_37n	frame_shift_ins	90	30.23	39	INS	1.000:1.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100056342	100056342	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:100056342C>T	ENST00000357054.1	+	13	1135	c.200C>T	c.(199-201)gCc>gTc	p.A67V	CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.A107V|RP11-23J9.4_ENST00000534123.1_RNA|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.A67V|CCDC180_ENST00000411667.2_5'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	67						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGGCTGATTGCCCGCATCGAC	0.567																																						dbGAP											0													111.0	98.0	102.0					9																	100056342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.200C>T	9.37:g.100056342C>T	ENSP00000349562:p.Ala67Val		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.A67V	ENST00000357054.1	37	c.200		9	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906442	0.72868	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.83419	-1.72;-1.72;-1.72	5.49	5.49	0.81192	.	.	.	.	.	D	0.91418	0.7292	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91795	0.5447	8	0.62326	D	0.03	.	17.2561	0.87057	0.0:1.0:0.0:0.0	.	67;67	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	V	107;67;67	ENSP00000364351:A107V;ENSP00000349562:A67V;ENSP00000378646:A67V	ENSP00000349562:A67V	A	+	2	0	C9orf174	99096163	1.000000	0.71417	0.753000	0.31225	0.407000	0.30961	6.429000	0.73387	2.752000	0.94435	0.655000	0.94253	GCC	C9orf174	-	NULL	ENSG00000197816		0.567	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		79	0.00	0	C	NM_020893		100056342	100056342	+1	no_errors	ENST00000357054	ensembl	human	known	69_37n	missense	57	33.72	29	SNP	0.997	T
CA9	768	genome.wustl.edu	37	9	35679912	35679912	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:35679912G>A	ENST00000378357.4	+	8	1231	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	376	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CTGAACTTCCGAGCGACGCAG	0.602																																						dbGAP											0													90.0	80.0	83.0					9																	35679912		2203	4300	6503	-	-	-	SO:0001583	missense	0			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1127G>A	9.37:g.35679912G>A	ENSP00000367608:p.Arg376Gln		Q5T4R1	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R376Q	ENST00000378357.4	37	c.1127	CCDS6585.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107369	0.77096	.	.	ENSG00000107159	ENST00000378357	D	0.84070	-1.8	4.98	4.98	0.66077	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.46145	D	0.000315	D	0.93370	0.7886	H	0.95470	3.675	0.40520	D	0.98082	D	0.89917	1.0	D	0.91635	0.999	D	0.94909	0.8063	10	0.87932	D	0	.	13.9509	0.64116	0.0:0.0:1.0:0.0	.	376	Q16790	CAH9_HUMAN	Q	376	ENSP00000367608:R376Q	ENSP00000367608:R376Q	R	+	2	0	CA9	35669912	1.000000	0.71417	0.959000	0.39883	0.531000	0.34715	4.545000	0.60698	2.752000	0.94435	0.467000	0.42956	CGA	CA9	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000107159		0.602	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	HGNC	protein_coding	OTTHUMT00000055479.1	120	0.00	0	G	NM_001216		35679912	35679912	+1	no_errors	ENST00000378357	ensembl	human	known	69_37n	missense	94	31.16	43	SNP	0.944	A
C9orf84	158401	genome.wustl.edu	37	9	114548233	114548233	+	5'UTR	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:114548233A>G	ENST00000374287.3	-	0	196				C9orf84_ENST00000374283.5_Missense_Mutation_p.V43A|C9orf84_ENST00000318737.4_5'Flank			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84											breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTAACTGCTACATGGTAACT	0.333																																						dbGAP											0													138.0	120.0	125.0					9																	114548233		692	1588	2280	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000374287.3:c.-65T>C	9.37:g.114548233A>G			A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	NULL	p.V43A	ENST00000374287.3	37	c.128	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	A	1.664	-0.510768	0.04231	.	.	ENSG00000165181	ENST00000374283	T	0.41400	1.0	4.44	-1.67	0.08238	.	0.984753	0.08237	N	0.976639	T	0.25419	0.0618	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.22765	-1.0207	9	0.35671	T	0.21	.	4.7596	0.13100	0.2677:0.2995:0.4328:0.0	.	43	Q5VXU9-2	.	A	43	ENSP00000363401:V43A	ENSP00000363401:V43A	V	-	2	0	C9orf84	113588054	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.072000	0.14617	-0.167000	0.10871	-0.297000	0.09499	GTA	C9orf84	-	NULL	ENSG00000165181		0.333	C9orf84-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding		120	0.00	0	A	NM_173521		114548233	114548233	-1	no_errors	ENST00000374283	ensembl	human	known	69_37n	missense	82	35.94	46	SNP	0.000	G
CACNA1D	776	genome.wustl.edu	37	3	53769442	53769442	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:53769442T>C	ENST00000350061.5	+	20	3174	c.2663T>C	c.(2662-2664)tTc>tCc	p.F888S	CACNA1D_ENST00000288139.4_Missense_Mutation_p.F908S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F888S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	888					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCACATCTTCACCAACCTC	0.592																																						dbGAP											0													162.0	137.0	146.0					3																	53769442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2663T>C	3.37:g.53769442T>C	ENSP00000288133:p.Phe888Ser		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.F908S	ENST00000350061.5	37	c.2723	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899822	0.91962	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	0.991;0.998;1.0;0.999	D;D;D;D	0.97110	0.955;0.974;1.0;0.972	D	0.99449	1.0940	10	0.87932	D	0	.	15.8404	0.78840	0.0:0.0:0.0:1.0	.	888;581;888;908	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	888;908;888;581	ENSP00000288133:F888S;ENSP00000288139:F908S;ENSP00000409174:F888S;ENSP00000418014:F581S	ENSP00000288139:F908S	F	+	2	0	CACNA1D	53744482	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.978000	0.88095	2.197000	0.70478	0.454000	0.30748	TTC	CACNA1D	-	NULL	ENSG00000157388		0.592	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	61	0.00	0	T	NM_000720		53769442	53769442	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	C
CACNA1S	779	genome.wustl.edu	37	1	201028335	201028335	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:201028335G>A	ENST00000362061.3	-	27	3733	c.3507C>T	c.(3505-3507)ctC>ctT	p.L1169L	CACNA1S_ENST00000367338.3_Silent_p.L1169L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1169					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAGGCCATGAGCTTGAGGA	0.577																																						dbGAP											0													117.0	100.0	106.0					1																	201028335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3507C>T	1.37:g.201028335G>A			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.L1169	ENST00000362061.3	37	c.3507	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000081248		0.577	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	87	0.00	0	G	NM_000069		201028335	201028335	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	silent	93	26.77	34	SNP	0.999	A
CACNA2D2	9254	genome.wustl.edu	37	3	50418195	50418195	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:50418195C>T	ENST00000479441.1	-	8	825	c.826G>A	c.(826-828)Gtc>Atc	p.V276I	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V276I|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.V276I|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V276I|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V276I|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V207I|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V276I|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V276I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	276					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCCTTCGGACATCGTACAGG	0.642																																						dbGAP											0													41.0	40.0	40.0					3																	50418195		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.826G>A	3.37:g.50418195C>T	ENSP00000418081:p.Val276Ile		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.V276I	ENST00000479441.1	37	c.826	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	c	24.4	4.530221	0.85706	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06142	3.35;3.34;3.34;3.35;3.35;3.34;3.34;3.35	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	L	0.55481	1.735	0.45837	D	0.998707	D;D	0.76494	0.999;0.999	D;D	0.74674	0.978;0.984	T	0.00470	-1.1720	10	0.87932	D	0	-31.8512	17.9058	0.88918	0.0:1.0:0.0:0.0	.	276;276	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	I	276;276;276;207;276;276;276;276	ENSP00000407393:V276I;ENSP00000404631:V276I;ENSP00000266039:V276I;ENSP00000354228:V207I;ENSP00000390526:V276I;ENSP00000378519:V276I;ENSP00000390329:V276I;ENSP00000418081:V276I	ENSP00000266039:V276I	V	-	1	0	CACNA2D2	50393199	1.000000	0.71417	0.970000	0.41538	0.957000	0.61999	7.537000	0.82033	2.537000	0.85549	0.645000	0.84053	GTC	CACNA2D2	-	NULL	ENSG00000007402		0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	80	0.00	0	C	NM_006030		50418195	50418195	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	missense	10	62.96	17	SNP	1.000	T
CADPS2	93664	genome.wustl.edu	37	7	121985736	121985736	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:121985736C>G	ENST00000449022.2	-	28	3524		c.e28-1		CADPS2_ENST00000412584.2_Splice_Site|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000334010.7_Splice_Site|RP5-1101C3.1_ENST00000602199.1_RNA|CADPS2_ENST00000313070.7_Splice_Site|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTCCTGGTTTCTGTTGTGAAG	0.328																																						dbGAP											0													113.0	108.0	110.0					7																	121985736		1816	4069	5885	-	-	-	SO:0001630	splice_region_variant	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3505-1G>C	7.37:g.121985736C>G			A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Splice_Site	SNP	-	e28-1	ENST00000449022.2	37	c.3505-1	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859470	0.91433	.	.	ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000462699;ENST00000412584;ENST00000449022;ENST00000397721	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS2	121772972	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	.	CADPS2	-	-	ENSG00000081803		0.328	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	117	0.00	0	C	NM_017954	Intron	121985736	121985736	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	splice_site	129	36.45	74	SNP	1.000	G
CADPS2	93664	genome.wustl.edu	37	7	122111514	122111514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:122111514C>A	ENST00000449022.2	-	14	2120	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	CADPS2_ENST00000412584.2_Nonsense_Mutation_p.E698*|CADPS2_ENST00000334010.7_Nonsense_Mutation_p.E702*|CADPS2_ENST00000313070.7_Nonsense_Mutation_p.E698*	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	701					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTGAATGTTCCATCAGTTCT	0.473																																						dbGAP											0													104.0	109.0	108.0					7																	122111514		1975	4185	6160	-	-	-	SO:0001587	stop_gained	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2101G>T	7.37:g.122111514C>A	ENSP00000398481:p.Glu701*		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Nonsense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E701*	ENST00000449022.2	37	c.2101	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.426182|11.426182	0.99560|0.99560	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.113463|.	0.64402|.	D|.	0.000013|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.62326|.	D|.	0.03|.	-24.0571|-24.0571	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	698;702;702;665;698;701|346	.|.	ENSP00000325581:E698X|.	E|G	-|-	1|2	0|0	CADPS2|CADPS2	121898750|121898750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.070000|6.070000	0.71220|0.71220	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA	CADPS2	-	NULL	ENSG00000081803		0.473	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	115	0.00	0	C	NM_017954		122111514	122111514	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	nonsense	87	35.07	47	SNP	1.000	A
CALR3	125972	genome.wustl.edu	37	19	16601239	16601239	+	Silent	SNP	G	G	C	rs185241971		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:16601239G>C	ENST00000269881.3	-	3	398	c.336C>G	c.(334-336)gtC>gtG	p.V112V	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	112	N-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGCAGGAAAGACCTTAATGT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20100	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													169.0	154.0	159.0					19																	16601239		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.336C>G	19.37:g.16601239G>C			D9N574|Q96LN3	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,pirsf_Calreticulin,prints_Calret/calnex	p.V112	ENST00000269881.3	37	c.336	CCDS12344.1	19																																																																																			CALR3	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,pirsf_Calreticulin,prints_Calret/calnex	ENSG00000141979		0.428	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR3	HGNC	protein_coding	OTTHUMT00000461089.1	140	0.00	0	G	NM_145046		16601239	16601239	-1	no_errors	ENST00000269881	ensembl	human	known	69_37n	silent	85	39.72	56	SNP	0.823	C
CAPN1	823	genome.wustl.edu	37	11	64973987	64973987	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:64973987G>A	ENST00000527323.1	+	12	1647	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	CAPN1_ENST00000533129.1_Silent_p.A469A|CAPN1_ENST00000533820.1_Silent_p.A469A|CAPN1_ENST00000524773.1_Silent_p.A469A|CAPN1_ENST00000279247.6_Silent_p.A469A			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	469	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGGCCAATGCGTCTCGGGCGC	0.667																																						dbGAP											0													66.0	75.0	72.0					11																	64973987		2101	4203	6304	-	-	-	SO:0001819	synonymous_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1407G>A	11.37:g.64973987G>A			Q2TTR0|Q6DHV4	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A469	ENST00000527323.1	37	c.1407	CCDS44644.1	11																																																																																			CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000014216		0.667	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	41	0.00	0	G			64973987	64973987	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	silent	7	61.11	11	SNP	0.005	A
CAPN10	11132	genome.wustl.edu	37	2	241531440	241531440	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:241531440G>A	ENST00000391984.2	+	4	757	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.L187L|CAPN10_ENST00000354082.4_Silent_p.L187L|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Silent_p.L187L	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	187	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GATGGAACCTGAAGGGCGTAG	0.657																																						dbGAP											0													34.0	38.0	37.0					2																	241531440		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.561G>A	2.37:g.241531440G>A			A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E184K	ENST00000391984.2	37	c.550	CCDS42838.1	2																																																																																			CAPN10	-	smart_Peptidase_C2_calpain_cat	ENSG00000142330		0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	34	0.00	0	G	NM_023083		241531440	241531440	+1	no_errors	ENST00000270361	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	A
CAPN8	388743	genome.wustl.edu	37	1	223722911	223722911	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:223722911C>G	ENST00000366872.5	-	14	1480	c.1481G>C	c.(1480-1482)aGg>aCg	p.R494T				A6NHC0	CAN8_HUMAN	calpain 8	507					digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						GCAGATACGCCTGAGCCTCCt	0.552																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366872.5:c.1481G>C	1.37:g.223722911C>G	ENSP00000355837:p.Arg494Thr		B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R494T	ENST00000366872.5	37	c.1481		1	.	.	.	.	.	.	.	.	.	.	C	5.276	0.236400	0.10023	.	.	ENSG00000203697	ENST00000366872	D	0.89050	-2.46	3.25	1.28	0.21552	.	0.753149	0.11272	U	0.581389	D	0.85902	0.5805	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.77164	-0.2688	7	0.87932	D	0	.	3.9552	0.09387	0.2335:0.6361:0.0:0.1304	.	.	.	.	T	494	ENSP00000355837:R494T	ENSP00000355837:R494T	R	-	2	0	CAPN8	221789534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.244000	0.18124	0.205000	0.20568	-0.175000	0.13238	AGG	CAPN8	-	smart_Calpain_III	ENSG00000203697		0.552	CAPN8-201	KNOWN	basic|appris_principal	protein_coding	CAPN8	HGNC	protein_coding		29	0.00	0	C	NM_001143962		223722911	223722911	-1	no_errors	ENST00000366872	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.000	G
CAPZA2	830	genome.wustl.edu	37	7	116557789	116557789	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:116557789C>T	ENST00000361183.3	+	10	868	c.729C>T	c.(727-729)atC>atT	p.I243I	CAPZA2_ENST00000458284.2_3'UTR	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	243					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGACTGCCATCAGTGAGAATT	0.338																																						dbGAP											0													135.0	130.0	132.0					7																	116557789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.729C>T	7.37:g.116557789C>T			B4DG50	Silent	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.I243	ENST00000361183.3	37	c.729	CCDS5768.1	7																																																																																			CAPZA2	-	pfam_WASH_F-actin_cap_alpha	ENSG00000198898		0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	98	0.00	0	C	NM_006136		116557789	116557789	+1	no_errors	ENST00000361183	ensembl	human	known	69_37n	silent	75	38.02	46	SNP	1.000	T
CASP1	834	genome.wustl.edu	37	11	104905104	104905104	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:104905104C>T	ENST00000533400.1	-	2	140	c.105G>A	c.(103-105)ctG>ctA	p.L35L	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000528974.1_5'UTR|CASP1_ENST00000598974.1_Silent_p.L35L|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Silent_p.L35L|CASP1_ENST00000436863.3_Silent_p.L35L|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000393136.4_Silent_p.L35L|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000525825.1_Silent_p.L35L|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000527979.1_Silent_p.L19L|CASP1_ENST00000594519.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CTTCCTTGTTCAGCACCCTTG	0.433																																					NSCLC(41;1246 1743 4934)	dbGAP											0													347.0	324.0	332.0					11																	104905104		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.105G>A	11.37:g.104905104C>T			B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Silent	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.L35	ENST00000533400.1	37	c.105	CCDS8330.1	11																																																																																			CASP1	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137752		0.433	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	291	0.00	0	C	NM_033292		104905104	104905104	-1	no_errors	ENST00000436863	ensembl	human	known	69_37n	silent	129	55.67	162	SNP	0.992	T
CASS4	57091	genome.wustl.edu	37	20	55027016	55027016	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:55027016A>G	ENST00000360314.3	+	6	1009	c.784A>G	c.(784-786)Agc>Ggc	p.S262G	CASS4_ENST00000371336.3_Missense_Mutation_p.S262G|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	262					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCTCTCACCAGCTTTGCGGA	0.522																																						dbGAP											0													66.0	67.0	67.0					20																	55027016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.784A>G	20.37:g.55027016A>G	ENSP00000353462:p.Ser262Gly		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S262G	ENST00000360314.3	37	c.784	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	A	5.110	0.205942	0.09704	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.12774	2.65;2.65	5.23	2.98	0.34508	.	0.794228	0.11255	N	0.583220	T	0.14700	0.0355	M	0.67953	2.075	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.33954	-0.9848	10	0.25106	T	0.35	-8.8388	6.3535	0.21389	0.6729:0.1722:0.1549:0.0	.	208;262;262	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	G	262	ENSP00000353462:S262G;ENSP00000360387:S262G	ENSP00000353462:S262G	S	+	1	0	CASS4	54460423	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.194000	0.17135	0.403000	0.25479	0.460000	0.39030	AGC	CASS4	-	NULL	ENSG00000087589		0.522	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	72	0.00	0	A	NM_020356		55027016	55027016	+1	no_errors	ENST00000360314	ensembl	human	known	69_37n	missense	45	40.00	30	SNP	0.000	G
CATSPERG	57828	genome.wustl.edu	37	19	38853115	38853115	+	Missense_Mutation	SNP	G	G	A	rs184689060	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:38853115G>A	ENST00000409235.3	+	19	2372	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E713K|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	753					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTCCGCGTACGAGCTGCCGGA	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		14212	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													69.0	67.0	67.0					19																	38853115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2257G>A	19.37:g.38853115G>A	ENSP00000386962:p.Glu753Lys		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.E753K	ENST00000409235.3	37	c.2257	CCDS12514.2	19	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.06	1.247135	0.22796	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.32988	1.43;1.43	4.45	-8.91	0.00778	.	2.391970	0.01613	N	0.022643	T	0.21921	0.0528	M	0.63428	1.95	0.09310	N	0.999995	B;B	0.19935	0.04;0.028	B;B	0.13407	0.003;0.009	T	0.30208	-0.9986	10	0.07325	T	0.83	-2.2275	4.6444	0.12565	0.1702:0.5172:0.1305:0.1821	.	753;713	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	K	713;753;753	ENSP00000387057:E713K;ENSP00000386962:E753K	ENSP00000386962:E753K	E	+	1	0	CATSPERG	43544955	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-2.610000	0.00885	-1.922000	0.01067	-0.502000	0.04539	GAG	CATSPERG	-	NULL	ENSG00000099338		0.577	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	31	0.00	0	G	NM_021185		38853115	38853115	+1	no_errors	ENST00000409235	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.000	A
CCDC148	130940	genome.wustl.edu	37	2	159201816	159201816	+	Missense_Mutation	SNP	C	C	T	rs183742128		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:159201816C>T	ENST00000283233.5	-	3	475	c.162G>A	c.(160-162)atG>atA	p.M54I	CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409187.1_Missense_Mutation_p.M63I|CCDC148_ENST00000409889.1_Missense_Mutation_p.M54I	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	54										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTGAAGTCAACATTGCTTTTC	0.358																																						dbGAP											0													253.0	235.0	241.0					2																	159201816		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.162G>A	2.37:g.159201816C>T	ENSP00000283233:p.Met54Ile		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	NULL	p.M54I	ENST00000283233.5	37	c.162	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	C	5.516	0.280217	0.10458	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000409889	T;T;T	0.41758	0.99;0.99;0.99	5.88	0.72	0.18214	.	.	.	.	.	T	0.26738	0.0654	L	0.36672	1.1	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	9	0.19147	T	0.46	-0.333	4.547	0.12085	0.0:0.4868:0.1542:0.359	.	54	Q8NFR7	CC148_HUMAN	I	54;63;54	ENSP00000283233:M54I;ENSP00000386674:M63I;ENSP00000386583:M54I	ENSP00000283233:M54I	M	-	3	0	CCDC148	158910062	0.005000	0.15991	0.223000	0.23860	0.602000	0.36980	-0.153000	0.10144	0.050000	0.15949	0.655000	0.94253	ATG	CCDC148	-	NULL	ENSG00000153237		0.358	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	217	0.00	0	C	NM_138803		159201816	159201816	-1	no_errors	ENST00000283233	ensembl	human	known	69_37n	missense	163	34.54	86	SNP	0.273	T
CCDC173	129881	genome.wustl.edu	37	2	170505788	170505788	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:170505788C>T	ENST00000447353.1	-	8	1326	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	407																	GATCTGCTTTCATGACAGCCA	0.338																																						dbGAP											0													139.0	125.0	129.0					2																	170505788		1826	4096	5922	-	-	-	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1221G>A	2.37:g.170505788C>T	ENSP00000391504:p.Met407Ile		Q6PJF6	Missense_Mutation	SNP	NULL	p.M407I	ENST00000447353.1	37	c.1221	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047475	0.19827	.	.	ENSG00000154479	ENST00000447353	T	0.08984	3.03	5.28	-1.13	0.09775	.	.	.	.	.	T	0.06554	0.0168	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45789	-0.9237	9	0.13470	T	0.59	.	6.4302	0.21792	0.1171:0.4587:0.0:0.4241	.	407	Q0VFZ6	CB077_HUMAN	I	407	ENSP00000391504:M407I	ENSP00000391504:M407I	M	-	3	0	C2orf77	170214034	0.043000	0.20138	0.121000	0.21740	0.993000	0.82548	-0.267000	0.08619	0.002000	0.14630	0.467000	0.42956	ATG	CCDC173	-	NULL	ENSG00000154479		0.338	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	198	0.00	0	C	NM_001085447		170505788	170505788	-1	no_errors	ENST00000447353	ensembl	human	known	69_37n	missense	196	33.78	100	SNP	0.017	T
CCDC173	129881	genome.wustl.edu	37	2	170537638	170537638	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:170537638A>T	ENST00000447353.1	-	2	278	c.173T>A	c.(172-174)aTt>aAt	p.I58N		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	58																	GCTATCTTGAATCCTTTTCCA	0.428																																						dbGAP											0													190.0	182.0	185.0					2																	170537638		1986	4162	6148	-	-	-	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.173T>A	2.37:g.170537638A>T	ENSP00000391504:p.Ile58Asn		Q6PJF6	Missense_Mutation	SNP	NULL	p.I58N	ENST00000447353.1	37	c.173	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.206057	0.79127	.	.	ENSG00000154479	ENST00000447353;ENST00000419478	D	0.88818	-2.43	5.79	5.79	0.91817	.	0.079041	0.49305	U	0.000151	D	0.94245	0.8152	M	0.78801	2.425	0.49915	D	0.999836	D	0.89917	1.0	D	0.73708	0.981	D	0.94841	0.8005	10	0.87932	D	0	.	16.1293	0.81414	1.0:0.0:0.0:0.0	.	58	Q0VFZ6	CB077_HUMAN	N	58;34	ENSP00000408143:I34N	ENSP00000408143:I34N	I	-	2	0	C2orf77	170245884	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.935000	0.75886	2.212000	0.71576	0.460000	0.39030	ATT	CCDC173	-	NULL	ENSG00000154479		0.428	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	165	0.00	0	A	NM_001085447		170537638	170537638	-1	no_errors	ENST00000447353	ensembl	human	known	69_37n	missense	148	18.68	34	SNP	1.000	T
CCNT1	904	genome.wustl.edu	37	12	49087736	49087736	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:49087736C>T	ENST00000261900.3	-	9	1483	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	421					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTCTGGGCAGCATATGCATAT	0.463																																						dbGAP											0													140.0	146.0	144.0					12																	49087736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1261G>A	12.37:g.49087736C>T	ENSP00000261900:p.Ala421Thr		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A421T	ENST00000261900.3	37	c.1261	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522807	0.64747	.	.	ENSG00000129315	ENST00000261900	T	0.19250	2.16	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.33245	0.995	0.80722	D	1	P	0.41929	0.765	B	0.41299	0.353	T	0.01583	-1.1319	10	0.27082	T	0.32	-14.5086	18.0305	0.89282	0.0:1.0:0.0:0.0	.	421	O60563	CCNT1_HUMAN	T	421	ENSP00000261900:A421T	ENSP00000261900:A421T	A	-	1	0	CCNT1	47374003	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.609000	0.82925	2.634000	0.89283	0.561000	0.74099	GCT	CCNT1	-	NULL	ENSG00000129315		0.463	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	116	0.00	0	C	NM_001240		49087736	49087736	-1	no_errors	ENST00000261900	ensembl	human	known	69_37n	missense	111	19.57	27	SNP	1.000	T
CCDC92	80212	genome.wustl.edu	37	12	124421638	124421638	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:124421638C>G	ENST00000238156.3	-	5	1317	c.963G>C	c.(961-963)gtG>gtC	p.V321V	CCDC92_ENST00000545891.1_Silent_p.V304V|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545135.1_Silent_p.V304V|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	321						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		AGTGCTTCCTCACCACCTTGC	0.667																																						dbGAP											0													71.0	61.0	64.0					12																	124421638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.963G>C	12.37:g.124421638C>G			B3KNQ0|Q9H697	Silent	SNP	NULL	p.V321	ENST00000238156.3	37	c.963	CCDS9256.1	12																																																																																			CCDC92	-	NULL	ENSG00000119242		0.667	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	52	0.00	0	C	NM_025140		124421638	124421638	-1	no_errors	ENST00000238156	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	0.913	G
CCT6B	10693	genome.wustl.edu	37	17	33259455	33259455	+	Silent	SNP	C	C	T	rs114022500		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:33259455C>T	ENST00000314144.5	-	11	1393	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	CCT6B_ENST00000421975.3_Silent_p.K389K|CCT6B_ENST00000436961.3_Silent_p.K381K	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	426					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTATACTGTTCTTATATGTAA	0.418																																						dbGAP											0													163.0	171.0	169.0					17																	33259455		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1278G>A	17.37:g.33259455C>T			B4DX20|B4DYB0|Q8TC34	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.K426	ENST00000314144.5	37	c.1278	CCDS32617.1	17																																																																																			CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.418	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	109	0.00	0	C	NM_006584		33259455	33259455	-1	no_errors	ENST00000314144	ensembl	human	known	69_37n	silent	36	58.62	51	SNP	0.998	T
CCZ1B	221960	genome.wustl.edu	37	7	6859417	6859417	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:6859417G>T	ENST00000316731.8	-	7	1250	c.678C>A	c.(676-678)ctC>ctA	p.L226L	CCZ1B_ENST00000538180.1_Silent_p.L83L	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	226						lysosome (GO:0005764)|membrane (GO:0016020)											GATCGTTATAGAGAAAAGCAG	0.368																																						dbGAP											0													15.0	14.0	14.0					7																	6859417		2052	4207	6259	-	-	-	SO:0001819	synonymous_variant	0			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.678C>A	7.37:g.6859417G>T			A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	pfam_DUF1712_fun	p.L226	ENST00000316731.8	37	c.678	CCDS5354.1	7																																																																																			CCZ1B	-	pfam_DUF1712_fun	ENSG00000146574		0.368	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	39	0.00	0	G	NM_198097		6859417	6859417	-1	no_errors	ENST00000316731	ensembl	human	known	69_37n	silent	31	49.18	30	SNP	1.000	T
CD1B	910	genome.wustl.edu	37	1	158299647	158299647	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:158299647C>A	ENST00000368168.3	-	3	709	c.602G>T	c.(601-603)aGa>aTa	p.R201I		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	201	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTAACCTTGTCTTTGCAGATC	0.423																																						dbGAP											0													162.0	151.0	154.0					1																	158299647		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.602G>T	1.37:g.158299647C>A	ENSP00000357150:p.Arg201Ile		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R201I	ENST00000368168.3	37	c.602	CCDS1176.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.12|12.12	1.843887|1.843887	0.32606|0.32606	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.19806	.|2.12	4.46|4.46	1.63|1.63	0.23807|0.23807	.|Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	.|0.126603	.|0.36066	.|N	.|0.002801	T|T	0.37571|0.37571	0.1008|0.1008	H|H	0.96015|0.96015	3.755|3.755	0.30020|0.30020	N|N	0.814431|0.814431	.|P;D	.|0.76494	.|0.741;0.999	.|B;D	.|0.70935	.|0.208;0.971	T|T	0.18587|0.18587	-1.0332|-1.0332	5|10	.|0.87932	.|D	.|0	-16.2331|-16.2331	3.492|3.492	0.07641|0.07641	0.2109:0.6005:0.0:0.1886|0.2109:0.6005:0.0:0.1886	.|.	.|201;201	.|P29016;P29016-2	.|CD1B_HUMAN;.	N|I	168|201	.|ENSP00000357150:R201I	.|ENSP00000357150:R201I	K|R	-|-	3|2	2|0	CD1B|CD1B	156566271|156566271	0.000000|0.000000	0.05858|0.05858	0.653000|0.653000	0.29593|0.29593	0.724000|0.724000	0.41520|0.41520	0.196000|0.196000	0.17176|0.17176	0.770000|0.770000	0.33336|0.33336	0.655000|0.655000	0.94253|0.94253	AAG|AGA	CD1B	-	superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like	ENSG00000158485		0.423	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	33	0.00	0	C	NM_001764		158299647	158299647	-1	no_errors	ENST00000368168	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.395	A
CD96	10225	genome.wustl.edu	37	3	111286411	111286411	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:111286411G>A	ENST00000283285.5	+	3	591	c.460G>A	c.(460-462)Gag>Aag	p.E154K	CD96_ENST00000438817.2_Missense_Mutation_p.E154K|CD96_ENST00000352690.4_Missense_Mutation_p.E154K	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	154					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATAGAAATAGAGATAAATCA	0.363									Opitz Trigonocephaly syndrome																													dbGAP											0													99.0	90.0	93.0					3																	111286411		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.460G>A	3.37:g.111286411G>A	ENSP00000283285:p.Glu154Lys		Q5JPB3	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.E154K	ENST00000283285.5	37	c.460	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203377	0.38905	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.65178	1.71;-0.14;1.71	5.37	0.0806	0.14421	Immunoglobulin subtype (1);	0.968819	0.08496	N	0.937108	T	0.38188	0.1031	L	0.27053	0.805	0.20489	N	0.999894	B;B;B;B	0.25312	0.123;0.102;0.123;0.062	B;B;B;B	0.21151	0.03;0.033;0.03;0.015	T	0.19063	-1.0317	10	0.09843	T	0.71	-0.5288	1.1614	0.01806	0.1743:0.1424:0.3604:0.3229	.	154;154;154;154	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	K	154	ENSP00000342040:E154K;ENSP00000283285:E154K;ENSP00000389801:E154K	ENSP00000283285:E154K	E	+	1	0	CD96	112769101	0.997000	0.39634	0.843000	0.33291	0.951000	0.60555	0.206000	0.17375	0.122000	0.18314	0.650000	0.86243	GAG	CD96	-	smart_Ig_sub	ENSG00000153283		0.363	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	107	0.00	0	G			111286411	111286411	+1	no_errors	ENST00000283285	ensembl	human	known	69_37n	missense	33	53.52	38	SNP	0.425	A
CDC27	996	genome.wustl.edu	37	17	45214547	45214547	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:45214547G>A	ENST00000066544.3	-	14	1977	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	CDC27_ENST00000527547.1_Silent_p.I627I|CDC27_ENST00000446365.2_Silent_p.I567I|CDC27_ENST00000531206.1_Silent_p.I634I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	628					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GATTGACTCTGATAGCATTTC	0.348																																						dbGAP											0													49.0	50.0	50.0					17																	45214547		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1884C>T	17.37:g.45214547G>A			G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q22*	ENST00000066544.3	37	c.64	CCDS11509.1	17																																																																																			CDC27	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	82	0.00	0	G			45214547	45214547	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571643	ensembl	human	putative	69_37n	nonsense	92	19.30	22	SNP	1.000	A
CDH26	60437	genome.wustl.edu	37	20	58559719	58559719	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:58559719A>G	ENST00000244047.5	+	6	878	c.567A>G	c.(565-567)gcA>gcG	p.A189A	CDH26_ENST00000348616.4_Silent_p.A189A			Q8IXH8	CAD26_HUMAN	cadherin 26	189	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AGATGTTAGCAGTCGATTTGG	0.358																																						dbGAP											0													97.0	103.0	101.0					20																	58559719		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.567A>G	20.37:g.58559719A>G			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A189	ENST00000244047.5	37	c.567		20																																																																																			CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000124215		0.358	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		112	0.00	0	A	NM_177980		58559719	58559719	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	silent	109	22.70	32	SNP	0.066	G
CDH4	1002	genome.wustl.edu	37	20	60485542	60485542	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:60485542G>A	ENST00000360469.5	+	9	1341	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R344Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	418	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGATGGACCGAGATCAGCCC	0.572																																						dbGAP											0													123.0	94.0	104.0					20																	60485542		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1253G>A	20.37:g.60485542G>A	ENSP00000353656:p.Arg418Gln		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.R418Q	ENST00000360469.5	37	c.1253	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342506	0.41498	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52983	0.64;0.64	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.265585	0.35124	N	0.003437	T	0.58935	0.2157	L	0.52266	1.64	0.47276	D	0.999372	D	0.67145	0.996	P	0.59056	0.851	T	0.58498	-0.7626	9	.	.	.	.	17.1368	0.86742	0.0:0.0:1.0:0.0	.	418	P55283	CADH4_HUMAN	Q	418;326;344	ENSP00000353656:R418Q;ENSP00000443301:R344Q	.	R	+	2	0	CDH4	59918937	0.260000	0.24053	0.998000	0.56505	0.478000	0.33099	1.715000	0.37971	2.145000	0.66743	0.556000	0.70494	CGA	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	62	0.00	0	G	NM_001794		60485542	60485542	+1	no_errors	ENST00000360469	ensembl	human	known	69_37n	missense	41	36.92	24	SNP	0.996	A
CDK15	65061	genome.wustl.edu	37	2	202712166	202712166	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:202712166A>G	ENST00000374598.4	+	9	914	c.914A>G	c.(913-915)aAc>aGc	p.N305S	CDK15_ENST00000410091.3_Missense_Mutation_p.N254S|CDK15_ENST00000450471.2_Missense_Mutation_p.N305S|CDK15_ENST00000434439.1_Missense_Mutation_p.N305S|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.N254S			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GGGGTTTCCAACATCCTTGAA	0.373																																						dbGAP											0													118.0	112.0	114.0					2																	202712166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.914A>G	2.37:g.202712166A>G	ENSP00000363726:p.Asn305Ser		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N305S	ENST00000374598.4	37	c.914		2	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831997	0.32421	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	6.02	3.57	0.40892	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.296902	0.36932	N	0.002326	T	0.19485	0.0468	N	0.03268	-0.37	0.30102	N	0.807377	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.17979	0.02;0.001;0.001	T	0.12016	-1.0564	10	0.30854	T	0.27	-12.6609	9.1485	0.36948	0.7716:0.0:0.2284:0.0	.	284;305;305	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	S	254;254;305;305;305	ENSP00000386901:N254S;ENSP00000260967:N254S;ENSP00000406472:N305S;ENSP00000412775:N305S;ENSP00000363726:N305S	ENSP00000260967:N254S	N	+	2	0	CDK15	202420411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.548000	0.36201	0.479000	0.27511	0.533000	0.62120	AAC	CDK15	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000138395		0.373	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	CDK15	HGNC	protein_coding	OTTHUMT00000336053.2	147	0.68	1	A			202712166	202712166	+1	no_errors	ENST00000374598	ensembl	human	known	69_37n	missense	174	16.75	35	SNP	1.000	G
CDK5RAP2	55755	genome.wustl.edu	37	9	123298718	123298718	+	Silent	SNP	C	C	T	rs374654660		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:123298718C>T	ENST00000349780.4	-	7	773	c.594G>A	c.(592-594)aaG>aaA	p.K198K	CDK5RAP2_ENST00000359309.3_Silent_p.K198K|CDK5RAP2_ENST00000360822.3_Silent_p.K198K|CDK5RAP2_ENST00000360190.4_Silent_p.K198K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	198					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTCTGAAAGCTTGCTTTCCA	0.527																																						dbGAP											0													139.0	118.0	125.0					9																	123298718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.594G>A	9.37:g.123298718C>T			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.K198	ENST00000349780.4	37	c.594	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL	ENSG00000136861		0.527	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	111	0.00	0	C	NM_018249		123298718	123298718	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	silent	70	37.50	42	SNP	1.000	T
CDK6	1021	genome.wustl.edu	37	7	92404027	92404027	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:92404027G>A	ENST00000265734.4	-	3	763	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	CDK6_ENST00000424848.2_Missense_Mutation_p.P118S	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GTTTCAGTGGGCACTCCAGGC	0.388			T	MLLT10	ALL																																	dbGAP		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													135.0	127.0	130.0					7																	92404027		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.352C>T	7.37:g.92404027G>A	ENSP00000265734:p.Pro118Ser		A4D1G0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P118S	ENST00000265734.4	37	c.352	CCDS5628.1	7	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523886	0.44866	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.39592	1.07;1.07	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	N	0.04820	-0.15	0.80722	D	1	B	0.13145	0.007	B	0.25759	0.063	T	0.08066	-1.0740	10	0.26408	T	0.33	-10.3811	19.8529	0.96746	0.0:0.0:1.0:0.0	.	118	Q00534	CDK6_HUMAN	S	118	ENSP00000265734:P118S;ENSP00000397087:P118S	ENSP00000265734:P118S	P	-	1	0	CDK6	92241963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.713000	0.98740	2.755000	0.94549	0.655000	0.94253	CCC	CDK6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105810		0.388	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	114	0.00	0	G			92404027	92404027	-1	no_errors	ENST00000265734	ensembl	human	known	69_37n	missense	91	31.58	42	SNP	1.000	A
CDO1	1036	genome.wustl.edu	37	5	115146973	115146973	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:115146973C>G	ENST00000250535.4	-	3	844	c.288G>C	c.(286-288)aaG>aaC	p.K96N	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	96					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	CCTGTAGCATCTTCAGAAAGC	0.408																																						dbGAP											0													198.0	187.0	191.0					5																	115146973		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.288G>C	5.37:g.115146973C>G	ENSP00000250535:p.Lys96Asn		B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.K96N	ENST00000250535.4	37	c.288	CCDS4121.1	5	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271885	0.80469	.	.	ENSG00000129596	ENST00000250535	T	0.52526	0.66	5.82	4.95	0.65309	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74166	-0.3753	10	0.48119	T	0.1	-20.4808	10.5771	0.45233	0.0:0.8524:0.0:0.1476	.	96	Q16878	CDO1_HUMAN	N	96	ENSP00000250535:K96N	ENSP00000250535:K96N	K	-	3	2	CDO1	115174872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.170000	0.50816	1.462000	0.47948	0.655000	0.94253	AAG	CDO1	-	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	ENSG00000129596		0.408	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	144	0.00	0	C	NM_001801		115146973	115146973	-1	no_errors	ENST00000250535	ensembl	human	known	69_37n	missense	102	40.35	69	SNP	1.000	G
CDYL2	124359	genome.wustl.edu	37	16	80666970	80666970	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:80666970G>C	ENST00000570137.2	-	3	935	c.780C>G	c.(778-780)ttC>ttG	p.F260L	CDYL2_ENST00000563890.1_Missense_Mutation_p.F261L|CDYL2_ENST00000566173.1_Missense_Mutation_p.F261L|CDYL2_ENST00000562812.1_Missense_Mutation_p.F261L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	260						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F260L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGATGTGCGTGAACCCTTCTT	0.552																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											192.0	139.0	157.0					16																	80666970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.780C>G	16.37:g.80666970G>C	ENSP00000476295:p.Phe260Leu		Q7Z5I8	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.F260L	ENST00000570137.2	37	c.780	CCDS32493.1	16	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485933	0.84854	.	.	ENSG00000166446	ENST00000299564	T	0.62498	0.02	4.52	4.52	0.55395	.	0.057708	0.64402	N	0.000001	T	0.67988	0.2952	L	0.46819	1.47	0.51767	D	0.999934	D	0.56968	0.978	P	0.60789	0.879	T	0.70200	-0.4937	10	0.72032	D	0.01	.	10.0735	0.42347	0.0922:0.0:0.9078:0.0	.	260	Q8N8U2	CDYL2_HUMAN	L	260	ENSP00000299564:F260L	ENSP00000299564:F260L	F	-	3	2	CDYL2	79224471	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.060000	0.64312	2.347000	0.79759	0.491000	0.48974	TTC	CDYL2	-	NULL	ENSG00000166446		0.552	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	HGNC	protein_coding	OTTHUMT00000434727.2	66	0.00	0	G	NM_152342		80666970	80666970	-1	no_errors	ENST00000299564	ensembl	human	known	69_37n	missense	22	65.62	42	SNP	1.000	C
CEACAM4	1089	genome.wustl.edu	37	19	42126606	42126606	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:42126606G>T	ENST00000221954.2	-	5	715	c.605C>A	c.(604-606)cCc>cAc	p.P202H	CEACAM4_ENST00000600925.1_Missense_Mutation_p.P200H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	202						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TCTGTGAGAGGGACCATGGCC	0.632																																						dbGAP											0													85.0	62.0	70.0					19																	42126606		2202	4293	6495	-	-	-	SO:0001583	missense	0			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.605C>A	19.37:g.42126606G>T	ENSP00000221954:p.Pro202His		Q03715|Q7LDZ7	Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.P202H	ENST00000221954.2	37	c.605	CCDS33033.1	19	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243985	0.22796	.	.	ENSG00000105352	ENST00000221954	T	0.01406	4.93	2.13	-0.248	0.13015	.	.	.	.	.	T	0.01320	0.0043	L	0.33189	0.99	0.09310	N	1	D;D	0.62365	0.991;0.991	B;B	0.43623	0.425;0.425	T	0.51616	-0.8683	9	0.37606	T	0.19	.	4.1542	0.10252	0.0:0.2611:0.4724:0.2665	.	200;202	E7EMX3;O75871	.;CEAM4_HUMAN	H	202	ENSP00000221954:P202H	ENSP00000221954:P202H	P	-	2	0	CEACAM4	46818446	0.002000	0.14202	0.000000	0.03702	0.023000	0.10783	-0.104000	0.10923	0.017000	0.15025	0.195000	0.17529	CCC	CEACAM4	-	NULL	ENSG00000105352		0.632	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM4	HGNC	protein_coding	OTTHUMT00000321148.1	113	0.88	1	G	NM_001817		42126606	42126606	-1	no_errors	ENST00000221954	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	0.000	T
CELF1	10658	genome.wustl.edu	37	11	47498973	47498973	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:47498973C>T	ENST00000358597.3	-	8	767	c.768G>A	c.(766-768)ttG>ttA	p.L256L	CELF1_ENST00000310513.5_Silent_p.L252L|CELF1_ENST00000361904.3_Silent_p.L252L|CELF1_ENST00000395292.2_Silent_p.L252L|CELF1_ENST00000395290.2_Silent_p.L255L|CELF1_ENST00000532048.1_Silent_p.L282L|CELF1_ENST00000531165.1_Silent_p.L283L|CELF1_ENST00000539455.1_5'Flank			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	256					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GCATTGCATTCAACCCTACAA	0.498																																					Pancreas(163;1949 1966 9906 43218 43785)	dbGAP											0													93.0	85.0	87.0					11																	47498973		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.768G>A	11.37:g.47498973C>T			B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L282	ENST00000358597.3	37	c.846	CCDS31482.1	11																																																																																			CELF1	-	NULL	ENSG00000149187		0.498	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF1	HGNC	protein_coding	OTTHUMT00000398352.1	58	0.00	0	C	NM_006560		47498973	47498973	-1	no_errors	ENST00000532048	ensembl	human	known	69_37n	silent	43	12.24	6	SNP	1.000	T
CELF2	10659	genome.wustl.edu	37	10	11356161	11356161	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:11356161G>C	ENST00000379261.4	+	10	1107	c.1015G>C	c.(1015-1017)Ggg>Cgg	p.G339R	CELF2_ENST00000399850.3_Missense_Mutation_p.G315R|CELF2_ENST00000315874.4_Missense_Mutation_p.G315R|CELF2_ENST00000354440.2_Missense_Mutation_p.G315R|CELF2_ENST00000354897.3_Missense_Mutation_p.G315R|CELF2_ENST00000537122.1_Missense_Mutation_p.G228R|CELF2_ENST00000450189.1_Missense_Mutation_p.G346R|CELF2_ENST00000427450.1_Missense_Mutation_p.G315R|CELF2_ENST00000417956.2_Missense_Mutation_p.G315R|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000608830.1_Missense_Mutation_p.G315R|CELF2_ENST00000609692.1_Missense_Mutation_p.G315R|CELF2_ENST00000542579.1_Missense_Mutation_p.G346R|CELF2_ENST00000416382.2_Missense_Mutation_p.G339R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	339	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GACCTCTCTCGGGACTCTGCA	0.507																																						dbGAP											0													101.0	98.0	99.0					10																	11356161		1925	4135	6060	-	-	-	SO:0001583	missense	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1015G>C	10.37:g.11356161G>C	ENSP00000368563:p.Gly339Arg		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.G346R	ENST00000379261.4	37	c.1036	CCDS44354.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906787	0.92107	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.38	5.38	0.77491	.	0.044747	0.85682	D	0.000000	T	0.71813	0.3384	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;1.0;0.99;0.999;0.974;0.995	T	0.73011	-0.4117	10	0.72032	D	0.01	-9.1516	19.3333	0.94303	0.0:0.0:1.0:0.0	.	323;339;111;334;346;334;339	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	R	339;339;346;346;315;315;315;315;315;315;228;145	ENSP00000368563:G339R;ENSP00000406451:G339R;ENSP00000389951:G346R;ENSP00000443926:G346R;ENSP00000382743:G315R;ENSP00000404834:G315R;ENSP00000315328:G315R;ENSP00000346426:G315R;ENSP00000388530:G315R;ENSP00000438884:G228R	ENSP00000315328:G315R	G	+	1	0	CELF2	11396167	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	9.208000	0.95075	2.793000	0.96121	0.655000	0.94253	GGG	CELF2	-	NULL	ENSG00000048740		0.507	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		136	0.00	0	G			11356161	11356161	+1	no_errors	ENST00000450189	ensembl	human	known	69_37n	missense	42	52.81	47	SNP	1.000	C
CEP250	11190	genome.wustl.edu	37	20	34091186	34091186	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:34091186G>A	ENST00000397527.1	+	30	5709	c.4989G>A	c.(4987-4989)caG>caA	p.Q1663Q	CEP250_ENST00000342580.4_Silent_p.Q1607Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1663	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGATGCTGCAGAAGGAGAGGA	0.562																																						dbGAP											0													110.0	118.0	116.0					20																	34091186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4989G>A	20.37:g.34091186G>A			E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.Q1663	ENST00000397527.1	37	c.4989	CCDS13255.1	20																																																																																			CEP250	-	NULL	ENSG00000126001		0.562	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	61	0.00	0	G	NM_007186		34091186	34091186	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	silent	27	38.64	17	SNP	0.995	A
CEP41	95681	genome.wustl.edu	37	7	130044478	130044478	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:130044478C>T	ENST00000223208.5	-	6	619	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CEP41_ENST00000343969.5_Missense_Mutation_p.E117K|CEP41_ENST00000541543.1_Missense_Mutation_p.E101K	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	117					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											GGCGACTGCTCACCTGGATTT	0.468																																						dbGAP											0													110.0	101.0	104.0					7																	130044478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.349G>A	7.37:g.130044478C>T	ENSP00000223208:p.Glu117Lys		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E117K	ENST00000223208.5	37	c.349	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	C	7.094	0.572762	0.13623	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;D;D;D;D	0.88664	-2.41;-2.06;-2.39;-2.05;-2.05;-2.06;-1.65	5.35	5.35	0.76521	Rhodanese-like (1);	0.334778	0.32935	N	0.005469	D	0.90700	0.7082	M	0.62723	1.935	0.31629	N	0.64927	D;P;B	0.71674	0.998;0.481;0.349	D;B;B	0.63488	0.915;0.108;0.079	D	0.86170	0.1599	10	0.10111	T	0.7	-17.9095	10.3903	0.44164	0.0:0.9107:0.0:0.0893	.	101;117;117	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	K	117;101;117;82;82;114;82	ENSP00000223208:E117K;ENSP00000445888:E101K;ENSP00000342738:E117K;ENSP00000419192:E82K;ENSP00000417593:E82K;ENSP00000420670:E114K;ENSP00000418363:E82K	ENSP00000223208:E117K	E	-	1	0	TSGA14	129831714	0.986000	0.35501	0.936000	0.37596	0.066000	0.16364	2.750000	0.47500	2.662000	0.90505	0.563000	0.77884	GAG	CEP41	-	superfamily_Rhodanese-like_dom	ENSG00000106477		0.468	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	137	0.00	0	C	NM_018718		130044478	130044478	-1	no_errors	ENST00000223208	ensembl	human	known	69_37n	missense	94	34.27	49	SNP	0.955	T
CHD6	84181	genome.wustl.edu	37	20	40033355	40033355	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:40033355C>T	ENST00000373233.3	-	37	8203	c.8026G>A	c.(8026-8028)Gaa>Aaa	p.E2676K	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2676					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCTCCCTTTCACAGCTGGGA	0.587																																						dbGAP											0													99.0	108.0	105.0					20																	40033355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8026G>A	20.37:g.40033355C>T	ENSP00000362330:p.Glu2676Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2676K	ENST00000373233.3	37	c.8026	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493623	0.26774	.	.	ENSG00000124177	ENST00000373233	D	0.87729	-2.29	5.99	5.99	0.97316	.	0.103449	0.42294	D	0.000738	D	0.83876	0.5349	L	0.34521	1.04	0.80722	D	1	B	0.20887	0.049	B	0.19666	0.026	T	0.78229	-0.2285	10	0.62326	D	0.03	-15.2512	20.4777	0.99188	0.0:1.0:0.0:0.0	.	2676	Q8TD26	CHD6_HUMAN	K	2676	ENSP00000362330:E2676K	ENSP00000362330:E2676K	E	-	1	0	CHD6	39466769	0.171000	0.23029	0.085000	0.20634	0.249000	0.25844	1.253000	0.32886	2.840000	0.97914	0.655000	0.94253	GAA	CHD6	-	NULL	ENSG00000124177		0.587	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	108	0.00	0	C			40033355	40033355	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	28	50.88	29	SNP	0.311	T
CHD8	57680	genome.wustl.edu	37	14	21869200	21869200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:21869200G>A	ENST00000557364.1	-	22	4467	c.4204C>T	c.(4204-4206)Cga>Tga	p.R1402*	CHD8_ENST00000430710.3_Nonsense_Mutation_p.R1123*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Nonsense_Mutation_p.R1402*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1402					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTTTGTTTTCGTACTCTAGGT	0.423																																						dbGAP											0													128.0	121.0	123.0					14																	21869200		1929	4149	6078	-	-	-	SO:0001587	stop_gained	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4204C>T	14.37:g.21869200G>A	ENSP00000451601:p.Arg1402*		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1402*	ENST00000557364.1	37	c.4204	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.078569|5.078569	0.94050|0.94050	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.068500|.	0.64402|.	D|.	0.000015|.	.|T	.|0.62502	.|0.2433	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68922	.|-0.5281	.|3	0.02654|.	T|.	1|.	-7.6386|-7.6386	12.4112|12.4112	0.55468|0.55468	0.0:0.0:0.8318:0.1682|0.0:0.0:0.8318:0.1682	.|.	.|.	.|.	.|.	X|M	1123;1402;1122;1402|627	.|.	ENSP00000262707:R1122X|.	R|T	-|-	1|2	2|0	CHD8|CHD8	20939040|20939040	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.656000|1.656000	0.37355|0.37355	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	CGA|ACG	CHD8	-	NULL	ENSG00000100888		0.423	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	174	0.00	0	G	NM_020920		21869200	21869200	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	nonsense	170	23.77	53	SNP	1.000	A
CHKA	1119	genome.wustl.edu	37	11	67833265	67833265	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:67833265G>C	ENST00000265689.4	-	9	1139	c.1113C>G	c.(1111-1113)acC>acG	p.T371T	CHKA_ENST00000356135.5_Silent_p.T353T	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	371					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GTTGTTTCTTGGTGGGATACT	0.343																																						dbGAP											0													112.0	110.0	111.0					11																	67833265		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.1113C>G	11.37:g.67833265G>C			Q8NE29	Silent	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.T371	ENST00000265689.4	37	c.1113	CCDS8178.1	11																																																																																			CHKA	-	pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom	ENSG00000110721		0.343	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHKA	HGNC	protein_coding	OTTHUMT00000394570.1	137	0.00	0	G	NM_001277		67833265	67833265	-1	no_errors	ENST00000265689	ensembl	human	known	69_37n	silent	48	57.14	64	SNP	0.960	C
CHRNA1	1134	genome.wustl.edu	37	2	175619015	175619015	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:175619015C>G	ENST00000261007.5	-	6	613	c.547G>C	c.(547-549)Gat>Cat	p.D183H	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409323.1_Missense_Mutation_p.D158H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.D158H|CHRNA1_ENST00000348749.5_Missense_Mutation_p.D158H	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	183					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TTCTGTTCATCAAAGGGAAAG	0.532																																						dbGAP											0													155.0	137.0	143.0					2																	175619015		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.547G>C	2.37:g.175619015C>G	ENSP00000261007:p.Asp183His		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.D183H	ENST00000261007.5	37	c.547	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.225842	0.95173	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409219;ENST00000409323	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98664	1.0685	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	158;158;183	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	H	158;183;158;158	ENSP00000261008:D158H;ENSP00000261007:D183H;ENSP00000386611:D158H;ENSP00000386684:D158H	ENSP00000261007:D183H	D	-	1	0	CHRNA1	175327261	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GAT	CHRNA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel	ENSG00000138435		0.532	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	101	0.00	0	C			175619015	175619015	-1	no_errors	ENST00000261007	ensembl	human	known	69_37n	missense	66	32.65	32	SNP	1.000	G
CHST15	51363	genome.wustl.edu	37	10	125804130	125804130	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:125804130G>A	ENST00000346248.5	-	3	1494	c.852C>T	c.(850-852)atC>atT	p.I284I	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.I284I|CHST15_ENST00000421115.1_Silent_p.I284I	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	284					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGGCTCCTTGATGGCGGAGA	0.612																																						dbGAP											0													32.0	35.0	34.0					10																	125804130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.852C>T	10.37:g.125804130G>A			O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom	p.I284	ENST00000346248.5	37	c.852	CCDS7638.1	10																																																																																			CHST15	-	pfam_Sulfotransferase_dom	ENSG00000182022		0.612	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	33	0.00	0	G	NM_015892		125804130	125804130	-1	no_errors	ENST00000346248	ensembl	human	known	69_37n	silent	7	58.82	10	SNP	1.000	A
CLEC16A	23274	genome.wustl.edu	37	16	11063041	11063041	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:11063041G>A	ENST00000409790.1	+	4	597	c.367G>A	c.(367-369)Gta>Ata	p.V123I	CLEC16A_ENST00000409552.3_Missense_Mutation_p.V123I	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAATAACTACGTAAATTCTAT	0.353																																						dbGAP											0													95.0	89.0	91.0					16																	11063041		1841	4082	5923	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.367G>A	16.37:g.11063041G>A	ENSP00000387122:p.Val123Ile			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.V123I	ENST00000409790.1	37	c.367	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840962	0.71488	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.44083	0.93	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	N	0.05031	-0.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.987	T	0.45745	-0.9240	10	0.20519	T	0.43	-10.9183	17.7921	0.88555	0.0:0.0:1.0:0.0	.	123;123	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	I	123	ENSP00000387122:V123I	ENSP00000386495:V123I	V	+	1	0	CLEC16A	10970542	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	7.916000	0.87491	2.442000	0.82660	0.655000	0.94253	GTA	CLEC16A	-	pfam_Uncharacterised_FPL	ENSG00000038532		0.353	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	136	0.73	1	G	NM_015226		11063041	11063041	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	114	34.48	60	SNP	1.000	A
CLIC2	1193	genome.wustl.edu	37	X	154563718	154563718	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:154563718C>T	ENST00000369449.2	-	1	237	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	CLIC2_ENST00000465553.1_5'UTR|RP13-228J13.1_ENST00000444722.1_RNA	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	7	N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTGAGTGCCGGGCCGCAGG	0.418													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13879	0.0		0.0	False		,,,				2504	0.0				Melanoma(108;581 1592 2289 21669 28822)	dbGAP											0													101.0	99.0	100.0					X																	154563718		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"""Ion channels / Chloride channels : Intracellular"""	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.19G>A	X.37:g.154563718C>T	ENSP00000358460:p.Gly7Ser		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.G7S	ENST00000369449.2	37	c.19	CCDS14767.1	X	.	.	.	.	.	.	.	.	.	.	c	6.630	0.484771	0.12641	.	.	ENSG00000155962	ENST00000369449;ENST00000321926	T;T	0.22743	1.94;2.0	4.24	1.77	0.24775	.	0.828385	0.11643	N	0.543538	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41875	-0.9484	10	0.10111	T	0.7	8.0047	5.9035	0.18980	0.0:0.237:0.0:0.763	.	7;7	Q86YM0;O15247	.;CLIC2_HUMAN	S	7	ENSP00000358460:G7S;ENSP00000318558:G7S	ENSP00000318558:G7S	G	-	1	0	CLIC2	154216912	0.011000	0.17503	0.001000	0.08648	0.645000	0.38454	0.373000	0.20484	0.130000	0.18549	-1.065000	0.02276	GGC	CLIC2	-	NULL	ENSG00000155962		0.418	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC2	HGNC	protein_coding	OTTHUMT00000058793.1	76	0.00	0	C	NM_001289		154563718	154563718	-1	no_errors	ENST00000369449	ensembl	human	known	69_37n	missense	44	41.56	32	SNP	0.003	T
CLIC6	54102	genome.wustl.edu	37	21	36088701	36088701	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:36088701G>A	ENST00000360731.3	+	7	2036	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K	CLIC6_ENST00000349499.2_Missense_Mutation_p.R661K			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	679	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCTTATGCTAGAGATGAGTTC	0.373																																						dbGAP											0													142.0	134.0	137.0					21																	36088701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2036G>A	21.37:g.36088701G>A	ENSP00000353959:p.Arg679Lys		A8K0U8|Q8IX31	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.R679K	ENST00000360731.3	37	c.2036		21	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859016	0.71834	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.95756	-3.8;-3.8	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.056220	0.64402	D	0.000002	D	0.98134	0.9384	M	0.88775	2.98	0.47584	D	0.999464	D;D	0.63880	0.988;0.993	D;D	0.71870	0.944;0.975	D	0.98406	1.0570	10	0.72032	D	0.01	-8.4446	20.1542	0.98100	0.0:0.0:1.0:0.0	.	679;661	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	K	679;661	ENSP00000353959:R679K;ENSP00000290332:R661K	ENSP00000290332:R661K	R	+	2	0	CLIC6	35010571	0.998000	0.40836	0.959000	0.39883	0.856000	0.48823	4.834000	0.62774	2.767000	0.95098	0.563000	0.77884	AGA	CLIC6	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel	ENSG00000159212		0.373	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLIC6	HGNC	protein_coding	OTTHUMT00000194156.1	142	0.00	0	G			36088701	36088701	+1	no_errors	ENST00000360731	ensembl	human	known	69_37n	missense	56	52.94	63	SNP	0.992	A
CLIP1	6249	genome.wustl.edu	37	12	122773065	122773065	+	Silent	SNP	G	G	C	rs375797056		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:122773065G>C	ENST00000540338.1	-	20	3659	c.3618C>G	c.(3616-3618)ctC>ctG	p.L1206L	CLIP1_ENST00000361654.4_Silent_p.L1084L|CLIP1_ENST00000545889.1_Silent_p.L781L|CLIP1_ENST00000302528.7_Silent_p.L1195L|CLIP1_ENST00000358808.2_Silent_p.L1195L|CLIP1_ENST00000537178.1_Silent_p.L1160L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1206					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTGATTATTGAGCACAGATC	0.348																																						dbGAP											0													114.0	114.0	114.0					12																	122773065		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3618C>G	12.37:g.122773065G>C			A0AVD3|Q17RS4|Q29RG0	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L1206	ENST00000540338.1	37	c.3618	CCDS58285.1	12																																																																																			CLIP1	-	NULL	ENSG00000130779		0.348	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	150	0.00	0	G	NM_002956		122773065	122773065	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	silent	109	30.13	47	SNP	1.000	C
CLIP3	25999	genome.wustl.edu	37	19	36515355	36515355	+	Silent	SNP	G	G	C	rs369876691		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:36515355G>C	ENST00000360535.4	-	7	1088	c.861C>G	c.(859-861)ctC>ctG	p.L287L	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.L287L	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	287					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCTAAGCATGAGATTGCCTG	0.622																																						dbGAP											0													118.0	102.0	107.0					19																	36515355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.861C>G	19.37:g.36515355G>C			A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.L287	ENST00000360535.4	37	c.861	CCDS12486.1	19																																																																																			CLIP3	-	superfamily_CAP-Gly_domain	ENSG00000105270		0.622	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	81	0.00	0	G	NM_015526		36515355	36515355	-1	no_errors	ENST00000360535	ensembl	human	known	69_37n	silent	18	40.00	12	SNP	1.000	C
CLPTM1L	81037	genome.wustl.edu	37	5	1335215	1335215	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:1335215G>C	ENST00000320895.5	-	6	1010	c.753C>G	c.(751-753)ttC>ttG	p.F251L	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.F251L|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.F118L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	251					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGTGGATCCAGAAGCGCAGCC	0.652																																						dbGAP											0													91.0	87.0	89.0					5																	1335215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.753C>G	5.37:g.1335215G>C	ENSP00000313854:p.Phe251Leu		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.F251L	ENST00000320895.5	37	c.753	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	G	5.502	0.277697	0.10403	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.35236	1.33;1.32;1.39	4.51	2.27	0.28462	.	0.093047	0.85682	N	0.000000	T	0.11836	0.0288	N	0.04655	-0.195	0.58432	D	0.999994	B;B	0.16166	0.016;0.005	B;B	0.20955	0.032;0.007	T	0.20571	-1.0271	10	0.02654	T	1	-24.8046	4.2599	0.10735	0.5307:0.0:0.4693:0.0	.	251;118	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	L	251;118;251	ENSP00000313854:F251L;ENSP00000423321:F118L;ENSP00000315196:F251L	ENSP00000313854:F251L	F	-	3	2	CLPTM1L	1388215	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.210000	0.42816	1.008000	0.39264	0.643000	0.83706	TTC	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.652	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	45	0.00	0	G	NM_030782		1335215	1335215	-1	no_errors	ENST00000320895	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	C
CMYA5	202333	genome.wustl.edu	37	5	79029944	79029944	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:79029944A>T	ENST00000446378.2	+	2	5387	c.5356A>T	c.(5356-5358)Att>Ttt	p.I1786F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1786					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGGGAGATATTTTAGATAA	0.433																																						dbGAP											0													80.0	77.0	78.0					5																	79029944		1861	4093	5954	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5356A>T	5.37:g.79029944A>T	ENSP00000394770:p.Ile1786Phe		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.I1786F	ENST00000446378.2	37	c.5356	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	4.363	0.066875	0.08388	.	.	ENSG00000164309	ENST00000446378	T	0.39229	1.09	4.29	-2.25	0.06888	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	P	0.44578	0.838	B	0.36030	0.216	T	0.15350	-1.0440	9	0.42905	T	0.14	.	8.872	0.35323	0.4483:0.0:0.5517:0.0	.	1786	Q8N3K9	CMYA5_HUMAN	F	1786	ENSP00000394770:I1786F	ENSP00000394770:I1786F	I	+	1	0	CMYA5	79065700	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.095000	0.15127	-0.487000	0.06735	-0.250000	0.11733	ATT	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	56	0.00	0	A	NM_153610		79029944	79029944	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	46	43.21	35	SNP	0.000	T
CNGA4	1262	genome.wustl.edu	37	11	6260939	6260939	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:6260939G>A	ENST00000379936.2	+	3	305	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	CNGA4_ENST00000533426.1_Missense_Mutation_p.G24S	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	64					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGCAGCACGGTTATCTGGT	0.572																																						dbGAP											0													125.0	104.0	111.0					11																	6260939		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.190G>A	11.37:g.6260939G>A	ENSP00000369268:p.Gly64Ser			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.G64S	ENST00000379936.2	37	c.190	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	g	5.881	0.346670	0.11126	.	.	ENSG00000132259	ENST00000533426;ENST00000379936	T;T	0.36878	1.23;1.23	5.27	-7.35	0.01422	.	0.738593	0.14142	N	0.338658	T	0.09291	0.0229	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.29805	0.001;0.0;0.257	B;B;B	0.17722	0.001;0.0;0.019	T	0.27434	-1.0074	10	0.18276	T	0.48	.	4.0344	0.09724	0.5605:0.1592:0.1868:0.0934	.	24;64;24	B4DYQ8;Q8IV77;Q8IV77-2	.;CNGA4_HUMAN;.	S	24;64	ENSP00000433399:G24S;ENSP00000369268:G64S	ENSP00000369268:G64S	G	+	1	0	CNGA4	6217515	0.000000	0.05858	0.018000	0.16275	0.941000	0.58515	-2.957000	0.00674	-1.084000	0.03092	-0.119000	0.15052	GGT	CNGA4	-	NULL	ENSG00000132259		0.572	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	112	0.00	0	G	NM_001037329		6260939	6260939	+1	no_errors	ENST00000379936	ensembl	human	known	69_37n	missense	28	48.15	26	SNP	0.000	A
CNOT1	23019	genome.wustl.edu	37	16	58570976	58570976	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:58570976G>C	ENST00000317147.5	-	39	5895	c.5563C>G	c.(5563-5565)Ctt>Gtt	p.L1855V	CNOT1_ENST00000569240.1_Missense_Mutation_p.L1850V|CNOT1_ENST00000245138.4_Missense_Mutation_p.L706V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1855					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCCTCAGAAGATACTCTGCC	0.502																																						dbGAP											0													147.0	124.0	131.0					16																	58570976		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5563C>G	16.37:g.58570976G>C	ENSP00000320949:p.Leu1855Val		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.L1855V	ENST00000317147.5	37	c.5563	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416351	0.83449	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.47177	0.85	5.92	4.96	0.65561	.	0.115626	0.64402	D	0.000015	T	0.50939	0.1645	M	0.73598	2.24	0.80722	D	1	P;B;P	0.41910	0.764;0.275;0.759	B;B;B	0.43950	0.235;0.184;0.437	T	0.43327	-0.9398	10	0.15952	T	0.53	.	13.7058	0.62639	0.0721:0.0:0.9279:0.0	.	706;1855;1850	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	1855;706;1850	ENSP00000320949:L1855V	ENSP00000245138:L706V	L	-	1	0	CNOT1	57128477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.931000	0.63469	2.809000	0.96659	0.655000	0.94253	CTT	CNOT1	-	NULL	ENSG00000125107		0.502	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	82	0.00	0	G	NM_016284		58570976	58570976	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	25	53.70	29	SNP	1.000	C
CNOT1	23019	genome.wustl.edu	37	16	58576209	58576209	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:58576209C>T	ENST00000317147.5	-	33	4938	c.4606G>A	c.(4606-4608)Gaa>Aaa	p.E1536K	CNOT1_ENST00000569240.1_Missense_Mutation_p.E1531K|CNOT1_ENST00000245138.4_Missense_Mutation_p.E387K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1536	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCGTCCTTCTTGCCTAGCA	0.398																																						dbGAP											0													107.0	101.0	103.0					16																	58576209		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4606G>A	16.37:g.58576209C>T	ENSP00000320949:p.Glu1536Lys		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.E1536K	ENST00000317147.5	37	c.4606	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.017291	0.97205	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.47177	0.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.98;0.992;0.994	T	0.63821	-0.6550	10	0.09843	T	0.71	-28.7353	20.8794	0.99867	0.0:1.0:0.0:0.0	.	387;1536;1531	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	K	1536;387;1531	ENSP00000320949:E1536K	ENSP00000245138:E387K	E	-	1	0	CNOT1	57133710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.774000	0.85478	2.941000	0.99782	0.655000	0.94253	GAA	CNOT1	-	NULL	ENSG00000125107		0.398	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	82	0.00	0	C	NM_016284		58576209	58576209	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	25	50.00	25	SNP	1.000	T
CNOT3	4849	genome.wustl.edu	37	19	54647843	54647843	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:54647843G>A	ENST00000406403.1	+	5	1963	c.360G>A	c.(358-360)gaG>gaA	p.E120E	CNOT3_ENST00000221232.5_Silent_p.E120E|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	120					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCAGAAGGAGAAGGAAGAGG	0.552																																						dbGAP											0													83.0	77.0	79.0					19																	54647843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.360G>A	19.37:g.54647843G>A			Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N	p.E39K	ENST00000406403.1	37	c.115	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888772	0.17540	.	.	ENSG00000088038	ENST00000440571	.	.	.	4.96	2.73	0.32206	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47433	-0.9118	4	.	.	.	-34.7067	7.1279	0.25482	0.3735:0.0:0.6265:0.0	.	.	.	.	K	41	.	.	R	+	2	0	CNOT3	59339655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.152000	0.31663	0.548000	0.28955	-0.345000	0.07892	AGA	CNOT3	-	pfam_Not_N	ENSG00000088038		0.552	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	142	0.00	0	G	NM_014516		54647843	54647843	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447684	ensembl	human	known	69_37n	missense	80	25.23	27	SNP	1.000	A
COBL	23242	genome.wustl.edu	37	7	51261261	51261261	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:51261261C>T	ENST00000265136.7	-	3	436	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	COBL_ENST00000441453.1_Missense_Mutation_p.E91K|COBL_ENST00000395540.2_Missense_Mutation_p.E91K|COBL_ENST00000395542.2_Missense_Mutation_p.E91K	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	91					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGCAAAGTTCAACCAGTAGG	0.413																																					NSCLC(189;2119 2138 12223 30818 34679)	dbGAP											0													83.0	73.0	76.0					7																	51261261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.271G>A	7.37:g.51261261C>T	ENSP00000265136:p.Glu91Lys		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E91K	ENST00000265136.7	37	c.271	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357575	0.82243	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.13089	2.68;2.62	5.58	5.58	0.84498	Cordon-bleu domain (1);	0.180903	0.27016	N	0.021355	T	0.36963	0.0986	M	0.70595	2.14	0.34591	D	0.715515	D;P;D;P;D	0.61697	0.99;0.835;0.971;0.866;0.99	P;P;P;P;D	0.63381	0.721;0.493;0.721;0.665;0.914	T	0.45934	-0.9227	10	0.66056	D	0.02	.	18.5559	0.91085	0.0:1.0:0.0:0.0	.	91;91;91;91;91	O75128-3;O75128-5;O75128-7;O75128;O75128-2	.;.;.;COBL_HUMAN;.	K	91;91;91;91;75	ENSP00000265136:E91K;ENSP00000378912:E91K	ENSP00000265136:E91K	E	-	1	0	COBL	51228755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.617000	0.61204	2.617000	0.88574	0.655000	0.94253	GAA	COBL	-	pfam_Cordon-bleu_domain	ENSG00000106078		0.413	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	96	0.00	0	C	NM_015198		51261261	51261261	-1	no_errors	ENST00000395542	ensembl	human	known	69_37n	missense	68	37.04	40	SNP	0.999	T
CNOT4	4850	genome.wustl.edu	37	7	135082944	135082944	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:135082944C>A	ENST00000315544.5	-	8	1135	c.856G>T	c.(856-858)Ggg>Tgg	p.G286W	CNOT4_ENST00000423368.2_Missense_Mutation_p.G286W|CNOT4_ENST00000541284.1_Missense_Mutation_p.G286W|CNOT4_ENST00000361528.4_Missense_Mutation_p.G283W|CNOT4_ENST00000451834.1_Missense_Mutation_p.G283W|CNOT4_ENST00000414802.1_Missense_Mutation_p.G286W|CNOT4_ENST00000356162.4_Missense_Mutation_p.G286W|CNOT4_ENST00000428680.2_Missense_Mutation_p.G283W	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	286					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCACCGTTCCCTATACTGAGA	0.343																																					Ovarian(51;766 1130 5502 35047 50875)	dbGAP											0													99.0	92.0	94.0					7																	135082944		1812	4079	5891	-	-	-	SO:0001583	missense	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.856G>T	7.37:g.135082944C>A	ENSP00000326731:p.Gly286Trp		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.G286W	ENST00000315544.5	37	c.856	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044707	0.75732	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.22	5.22	0.72569	.	0.153162	0.56097	D	0.000022	T	0.55784	0.1942	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.69078	0.983;0.99;0.983;0.99;0.997;0.99	P;P;B;P;D;P	0.68765	0.533;0.723;0.431;0.634;0.96;0.792	T	0.59883	-0.7370	10	0.62326	D	0.03	-7.3712	17.7136	0.88328	0.0:1.0:0.0:0.0	.	283;286;286;283;286;283	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	W	286;283;286;286;283;286;286;283;286	ENSP00000445508:G286W;ENSP00000388491:G283W;ENSP00000406777:G286W;ENSP00000354673:G283W;ENSP00000416532:G286W;ENSP00000348485:G286W;ENSP00000399108:G283W;ENSP00000326731:G286W	ENSP00000262563:G286W	G	-	1	0	CNOT4	134733484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.499000	0.66937	2.588000	0.87417	0.650000	0.86243	GGG	CNOT4	-	NULL	ENSG00000080802		0.343	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	HGNC	protein_coding		122	0.00	0	C	NM_013316		135082944	135082944	-1	no_errors	ENST00000541284	ensembl	human	known	69_37n	missense	113	34.30	59	SNP	1.000	A
COL20A1	57642	genome.wustl.edu	37	20	61929275	61929275	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:61929275G>A	ENST00000358894.6	+	3	196	c.96G>A	c.(94-96)ctG>ctA	p.L32L	COL20A1_ENST00000422202.1_Silent_p.L32L|COL20A1_ENST00000435874.1_Silent_p.L32L|COL20A1_ENST00000326996.6_Silent_p.L32L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	32	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGGTCTCCTGAGGCTGGCTG	0.622																																						dbGAP											0													42.0	51.0	48.0					20																	61929275		2038	4180	6218	-	-	-	SO:0001819	synonymous_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.96G>A	20.37:g.61929275G>A			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L32	ENST00000358894.6	37	c.96	CCDS46628.1	20																																																																																			COL20A1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000101203		0.622	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	49	0.00	0	G	NM_020882		61929275	61929275	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	silent	10	50.00	10	SNP	1.000	A
COL5A2	1290	genome.wustl.edu	37	2	189957098	189957098	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:189957098G>T	ENST00000374866.3	-	7	779	c.505C>A	c.(505-507)Caa>Aaa	p.Q169K	AC133106.2_ENST00000419029.1_RNA	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	169					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCACCAGGTTGACCAGGAACA	0.522																																						dbGAP											0													63.0	54.0	57.0					2																	189957098		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.505C>A	2.37:g.189957098G>T	ENSP00000364000:p.Gln169Lys		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q169K	ENST00000374866.3	37	c.505	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515466	0.44763	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.92752	-3.1	5.98	5.98	0.97165	.	0.000000	0.49305	D	0.000144	D	0.87924	0.6300	N	0.20807	0.61	0.49389	D	0.999788	P	0.42785	0.79	B	0.43754	0.43	D	0.86364	0.1719	9	.	.	.	.	17.3749	0.87389	0.0:0.0:1.0:0.0	.	169	P05997	CO5A2_HUMAN	K	169;43	ENSP00000364000:Q169K	.	Q	-	1	0	COL5A2	189665343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.564000	0.82326	2.835000	0.97688	0.650000	0.86243	CAA	COL5A2	-	pfam_Collagen	ENSG00000204262		0.522	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	53	0.00	0	G	NM_000393		189957098	189957098	-1	no_errors	ENST00000374866	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	T
COL4A4	1286	genome.wustl.edu	37	2	227872982	227872982	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:227872982G>A	ENST00000396625.3	-	47	4768	c.4561C>T	c.(4561-4563)Ccc>Tcc	p.P1521S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1518S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1521	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TAGGCAAAGGGCAGCGTGCTA	0.587																																						dbGAP											0													55.0	63.0	60.0					2																	227872982		2132	4233	6365	-	-	-	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4561C>T	2.37:g.227872982G>A	ENSP00000379866:p.Pro1521Ser		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1521S	ENST00000396625.3	37	c.4561	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504822	0.85176	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.92299	-3.01;-3.01	6.08	6.08	0.98989	C-type lectin fold (1);	.	.	.	.	D	0.97885	0.9305	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98283	1.0509	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1521	P53420	CO4A4_HUMAN	S	1521;1518	ENSP00000379866:P1521S;ENSP00000328553:P1518S	ENSP00000328553:P1518S	P	-	1	0	COL4A4	227581226	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	CCC	COL4A4	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000081052		0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	67	0.00	0	G	NM_000092		227872982	227872982	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	missense	40	32.20	19	SNP	1.000	A
COQ6	51004	genome.wustl.edu	37	14	74422535	74422535	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:74422535A>T	ENST00000334571.2	+	4	425	c.385A>T	c.(385-387)Ata>Tta	p.I129L	COQ6_ENST00000394026.4_Missense_Mutation_p.I104L|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.I129L|COQ6_ENST00000238709.4_Missense_Mutation_p.I54L	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	129					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AGAGGCCCTGATAATGTTTGA	0.433																																						dbGAP											0													180.0	170.0	173.0					14																	74422535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.385A>T	14.37:g.74422535A>T	ENSP00000333946:p.Ile129Leu		B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases	p.I129L	ENST00000334571.2	37	c.385	CCDS9823.1	14	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759182	0.49468	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000553462;ENST00000334571;ENST00000556300;ENST00000554153;ENST00000557584;ENST00000554920;ENST00000557205;ENST00000554320;ENST00000555392	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.62088	1.915	0.80722	D	1	P;P;D;P;B;P;P;P	0.56746	0.76;0.938;0.977;0.897;0.296;0.938;0.938;0.55	P;P;D;P;B;P;P;B	0.67103	0.504;0.73;0.949;0.571;0.241;0.599;0.69;0.241	T	0.63765	-0.6563	10	0.66056	D	0.02	-5.8428	15.794	0.78394	1.0:0.0:0.0:0.0	.	74;129;74;104;129;54;54;54	B7Z8E9;B7Z357;B7Z262;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;.;.;COQ6_HUMAN;.;.;.	L	104;54;54;54;129;129;74;74;129;74;54;54	ENSP00000377594:I104L;ENSP00000238709:I54L;ENSP00000333946:I129L;ENSP00000451123:I54L	ENSP00000238709:I54L	I	+	1	0	COQ6	73492288	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.548000	0.90669	2.317000	0.78254	0.459000	0.35465	ATA	COQ6	-	tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases	ENSG00000119723		0.433	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ6	HGNC	protein_coding	OTTHUMT00000412616.1	133	0.00	0	A			74422535	74422535	+1	no_errors	ENST00000334571	ensembl	human	known	69_37n	missense	126	25.00	42	SNP	1.000	T
CORIN	10699	genome.wustl.edu	37	4	47605516	47605516	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:47605516C>T	ENST00000273857.4	-	20	2709	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	CORIN_ENST00000505909.1_Missense_Mutation_p.E867K|CORIN_ENST00000502252.1_Missense_Mutation_p.E837K|CORIN_ENST00000508498.1_Missense_Mutation_p.E765K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	904	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TAGCCAGTCTCACTGATGTCT	0.557																																						dbGAP											0													143.0	115.0	124.0					4																	47605516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2710G>A	4.37:g.47605516C>T	ENSP00000273857:p.Glu904Lys		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E904K	ENST00000273857.4	37	c.2710	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858885	0.32884	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.95	4.09	0.47781	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.169630	0.49305	D	0.000151	T	0.45677	0.1354	N	0.20986	0.625	0.80722	D	1	P;P	0.37141	0.507;0.584	B;B	0.37550	0.173;0.253	T	0.45454	-0.9260	10	0.37606	T	0.19	.	16.0446	0.80711	0.0:0.7464:0.2536:0.0	.	837;904	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	K	904;765;837;867	ENSP00000273857:E904K;ENSP00000425597:E765K;ENSP00000424212:E837K;ENSP00000425401:E867K	ENSP00000273857:E904K	E	-	1	0	CORIN	47300273	0.998000	0.40836	0.391000	0.26233	0.002000	0.02628	3.876000	0.56115	1.482000	0.48325	0.561000	0.74099	GAG	CORIN	-	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000145244		0.557	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	100	0.00	0	C			47605516	47605516	-1	no_errors	ENST00000273857	ensembl	human	known	69_37n	missense	49	42.35	36	SNP	0.996	T
CPA1	1357	genome.wustl.edu	37	7	130025744	130025744	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:130025744G>A	ENST00000011292.3	+	9	1202	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	CPA1_ENST00000484324.1_Missense_Mutation_p.G263D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	351					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TTCAACTATGGCAGCATCATC	0.542																																						dbGAP											0													111.0	96.0	101.0					7																	130025744		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1052G>A	7.37:g.130025744G>A	ENSP00000011292:p.Gly351Asp		A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G351D	ENST00000011292.3	37	c.1052	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256066	0.80246	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.14893	2.47;2.47;2.47	5.44	5.44	0.79542	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72766	-0.4194	10	0.87932	D	0	.	17.1103	0.86673	0.0:0.0:1.0:0.0	.	351;263	P15085;C9JUF9	CBPA1_HUMAN;.	D	351;263;263	ENSP00000011292:G351D;ENSP00000419408:G263D;ENSP00000419497:G263D	ENSP00000011292:G351D	G	+	2	0	CPA1	129812980	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	7.590000	0.82653	2.723000	0.93209	0.655000	0.94253	GGC	CPA1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000091704		0.542	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	160	0.00	0	G	NM_001868		130025744	130025744	+1	no_errors	ENST00000011292	ensembl	human	known	69_37n	missense	91	36.55	53	SNP	1.000	A
CPSF1	29894	genome.wustl.edu	37	8	145625827	145625827	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:145625827C>T	ENST00000349769.3	-	8	841	c.747G>A	c.(745-747)caG>caA	p.Q249Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	249					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTGCACCTTCTGCGTGATGT	0.647																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													108.0	107.0	108.0					8																	145625827		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.747G>A	8.37:g.145625827C>T			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q249	ENST00000349769.3	37	c.747	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	64	0.00	0	C	NM_013291		145625827	145625827	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	silent	11	54.17	13	SNP	1.000	T
CPT1C	126129	genome.wustl.edu	37	19	50215134	50215134	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:50215134G>A	ENST00000392518.4	+	17	2307	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	CPT1C_ENST00000405931.2_Missense_Mutation_p.M634I|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000323446.5_Missense_Mutation_p.M645I|CPT1C_ENST00000598293.1_Missense_Mutation_p.M645I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	645					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCAGCCATGAGCGGGCAGG	0.637																																						dbGAP											0													104.0	87.0	93.0					19																	50215134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1935G>A	19.37:g.50215134G>A	ENSP00000376303:p.Met645Ile		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.M645I	ENST00000392518.4	37	c.1935	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009268	0.93346	.	.	ENSG00000169169	ENST00000392518;ENST00000405931;ENST00000323446	D;D;D	0.88354	-2.37;-2.37;-2.37	4.46	4.46	0.54185	.	0.116985	0.39020	N	0.001494	D	0.86789	0.6017	L	0.41710	1.295	0.80722	D	1	P;P	0.47034	0.889;0.806	P;P	0.46320	0.453;0.512	D	0.85790	0.1367	10	0.32370	T	0.25	-24.4338	16.4824	0.84161	0.0:0.0:1.0:0.0	.	634;645	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	I	645;634;645	ENSP00000376303:M645I;ENSP00000384465:M634I;ENSP00000319343:M645I	ENSP00000319343:M645I	M	+	3	0	CPT1C	54906946	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.170000	0.77587	2.511000	0.84671	0.650000	0.86243	ATG	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.637	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	86	0.00	0	G	NM_152359		50215134	50215134	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	1.000	A
CRB1	23418	genome.wustl.edu	37	1	197404570	197404570	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:197404570G>A	ENST00000367400.3	+	9	3712	c.3577G>A	c.(3577-3579)Gac>Aac	p.D1193N	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.D674N|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.D1081N|CRB1_ENST00000367397.1_Missense_Mutation_p.D574N|CRB1_ENST00000535699.1_Missense_Mutation_p.D1169N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1193	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAACTGCTCTGACAGAGTTGC	0.488																																						dbGAP											0													101.0	81.0	88.0					1																	197404570		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3577G>A	1.37:g.197404570G>A	ENSP00000356370:p.Asp1193Asn		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1193N	ENST00000367400.3	37	c.3577	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145500	0.57044	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-2.15;-2.15	5.7	4.65	0.58169	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89118	0.6624	N	0.02854	-0.475	0.51233	D	0.999917	D;D;P;D	0.76494	0.999;0.998;0.587;0.997	D;D;B;D	0.81914	0.92;0.995;0.146;0.956	D	0.90345	0.4362	9	0.48119	T	0.1	.	12.3195	0.54977	0.0991:0.0:0.9009:0.0	.	1169;1081;842;1193	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	1169;1193;1081;674;574;842	ENSP00000438786:D1169N;ENSP00000356370:D1193N;ENSP00000356369:D1081N;ENSP00000444556:D674N;ENSP00000356367:D574N	ENSP00000356367:D574N	D	+	1	0	CRB1	195671193	0.980000	0.34600	0.137000	0.22149	0.629000	0.37895	4.467000	0.60155	1.150000	0.42419	0.650000	0.86243	GAC	CRB1	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134376		0.488	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	99	0.00	0	G	NM_201253		197404570	197404570	+1	no_errors	ENST00000367400	ensembl	human	known	69_37n	missense	80	21.57	22	SNP	0.895	A
CRHBP	1393	genome.wustl.edu	37	5	76251689	76251689	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:76251689G>A	ENST00000274368.4	+	4	966		c.e4+1		CRHBP_ENST00000506501.1_Splice_Site	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein						behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		AACCTCTTTCGTAAGTGTTCT	0.408																																						dbGAP											0													73.0	63.0	67.0					5																	76251689		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.544+1G>A	5.37:g.76251689G>A			Q53F32|Q6FHT5	Splice_Site	SNP	-	e4+1	ENST00000274368.4	37	c.544+1	CCDS4034.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228816	0.79576	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6527	0.88169	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRHBP	76287445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.166000	0.94766	2.388000	0.81334	0.655000	0.94253	.	CRHBP	-	-	ENSG00000145708		0.408	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHBP	HGNC	protein_coding	OTTHUMT00000219972.2	48	0.00	0	G	NM_001882	Intron	76251689	76251689	+1	no_errors	ENST00000274368	ensembl	human	known	69_37n	splice_site	59	29.76	25	SNP	1.000	A
CRNKL1	51340	genome.wustl.edu	37	20	20026080	20026080	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:20026080C>G	ENST00000377340.2	-	7	1187	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E374Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E225Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	386					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGTTTTTCTTCAAAGCGGGCA	0.423																																						dbGAP											0													160.0	154.0	156.0					20																	20026080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1156G>C	20.37:g.20026080C>G	ENSP00000366557:p.Glu386Gln		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.E386Q	ENST00000377340.2	37	c.1156	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.185906	0.94885	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.09817	2.94;2.94;2.94	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	H	0.96576	3.845	0.80722	D	1	D	0.57257	0.979	P	0.56865	0.808	T	0.64445	-0.6406	10	0.87932	D	0	-25.5681	20.0466	0.97609	0.0:1.0:0.0:0.0	.	386	Q9BZJ0	CRNL1_HUMAN	Q	374;386;225	ENSP00000366544:E374Q;ENSP00000366557:E386Q;ENSP00000440733:E225Q	ENSP00000366544:E374Q	E	-	1	0	CRNKL1	19974080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.078000	0.71282	2.729000	0.93468	0.563000	0.77884	GAA	CRNKL1	-	pfam_HAT,smart_HAT	ENSG00000101343		0.423	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	119	0.00	0	C			20026080	20026080	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	120	30.23	52	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16950932	16950932	+	lincRNA	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:16950932C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGCTCCAGCTCCTGCTCCCGC	0.672																																						dbGAP											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.16950932C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.672	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	22	0.00	0	C	NR_026752.1		16950932	16950932	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.992	T
CSE1L	1434	genome.wustl.edu	37	20	47701911	47701911	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:47701911T>G	ENST00000262982.2	+	16	1834	c.1711T>G	c.(1711-1713)Tat>Gat	p.Y571D	CSE1L_ENST00000542325.1_Missense_Mutation_p.Y354D|CSE1L_ENST00000396192.3_Missense_Mutation_p.Y515D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	571					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGAAAATGAATATATTATGAA	0.413																																						dbGAP											0													82.0	79.0	80.0					20																	47701911		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1711T>G	20.37:g.47701911T>G	ENSP00000262982:p.Tyr571Asp		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Y571D	ENST00000262982.2	37	c.1711	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398348	0.83120	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.59638	0.25;0.25;0.25	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.997;0.996;0.998	T	0.78607	-0.2138	10	0.30078	T	0.28	-17.8325	15.5931	0.76554	0.0:0.0:0.0:1.0	.	260;354;515;515;571	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	D	169;571;354;515	ENSP00000262982:Y571D;ENSP00000446477:Y354D;ENSP00000379495:Y515D	ENSP00000262982:Y571D	Y	+	1	0	CSE1L	47135318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.630000	0.83225	2.150000	0.67090	0.533000	0.62120	TAT	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.413	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	100	0.00	0	T	NM_001316		47701911	47701911	+1	no_errors	ENST00000262982	ensembl	human	known	69_37n	missense	92	22.03	26	SNP	1.000	G
CSPP1	79848	genome.wustl.edu	37	8	68087602	68087602	+	Nonsense_Mutation	SNP	C	C	T	rs374717800		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:68087602C>T	ENST00000262210.5	+	24	3056	c.3025C>T	c.(3025-3027)Cag>Tag	p.Q1009*	ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q664*	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1044					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTTAGAGATTCAGCAGCAAGC	0.378																																						dbGAP											0													63.0	62.0	62.0					8																	68087602		1883	4110	5993	-	-	-	SO:0001587	stop_gained	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3025C>T	8.37:g.68087602C>T	ENSP00000262210:p.Gln1009*		A6ND63|Q70F00|Q8TBC1	Nonsense_Mutation	SNP	NULL	p.Q1009*	ENST00000262210.5	37	c.3025	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	C	47	13.054074	0.99716	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	4.8	3.91	0.45181	.	0.082853	0.48767	D	0.000167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.252	14.214	0.65781	0.0:0.8488:0.1512:0.0	.	.	.	.	X	1009;1044;664;664	.	ENSP00000262210:Q1009X	Q	+	1	0	CSPP1	68250156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.764000	0.55264	1.123000	0.41961	0.591000	0.81541	CAG	CSPP1	-	NULL	ENSG00000104218		0.378	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	85	0.00	0	C	NM_024790		68087602	68087602	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	nonsense	35	40.68	24	SNP	1.000	T
CSRP2BP	57325	genome.wustl.edu	37	20	18123319	18123319	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:18123319C>G	ENST00000435364.3	+	1	356	c.15C>G	c.(13-15)atC>atG	p.I5M	PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000489634.2_5'Flank|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.I5M	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	5					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATAGTAGCATCCACCTGAGTA	0.532																																						dbGAP											0													94.0	73.0	80.0					20																	18123319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.15C>G	20.37:g.18123319C>G	ENSP00000392318:p.Ile5Met		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.I5M	ENST00000435364.3	37	c.15	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882849	0.33255	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.16457	2.34;2.34;2.34	5.44	-0.0221	0.13948	.	0.515192	0.21581	N	0.072252	T	0.06416	0.0165	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26780	-1.0093	10	0.42905	T	0.14	-19.2665	2.6023	0.04869	0.1181:0.454:0.2297:0.1981	.	5	Q9H8E8	CSR2B_HUMAN	M	5	ENSP00000278816:I5M;ENSP00000366909:I5M;ENSP00000392318:I5M	ENSP00000278816:I5M	I	+	3	3	CSRP2BP	18071319	0.002000	0.14202	0.983000	0.44433	0.760000	0.43138	-1.388000	0.02533	0.065000	0.16485	0.563000	0.77884	ATC	CSRP2BP	-	NULL	ENSG00000149474		0.532	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	40	0.00	0	C	NM_020536		18123319	18123319	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	22	47.62	20	SNP	0.970	G
CTAGE9	643854	genome.wustl.edu	37	6	132031204	132031204	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:132031204C>T	ENST00000314099.8	-	1	1002	c.954G>A	c.(952-954)ctG>ctA	p.L318L	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	318						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CAGCATGAATCAGTTTCTTCA	0.358																																						dbGAP											0													63.0	43.0	49.0					6																	132031204		692	1588	2280	-	-	-	SO:0001819	synonymous_variant	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.954G>A	6.37:g.132031204C>T				Silent	SNP	NULL	p.L318	ENST00000314099.8	37	c.954	CCDS47475.1	6																																																																																			CTAGE9	-	NULL	ENSG00000236761		0.358	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	122	0.00	0	C	NM_001145659		132031204	132031204	-1	no_errors	ENST00000314099	ensembl	human	known	69_37n	silent	65	68.75	143	SNP	0.000	T
CTIF	9811	genome.wustl.edu	37	18	46163043	46163043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:46163043delC	ENST00000256413.3	+	3	534	c.239delC	c.(238-240)gccfs	p.A80fs	CTIF_ENST00000382998.4_Frame_Shift_Del_p.A80fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CGAGGGCGAGCCCCCCCACAG	0.642																																						dbGAP											0													31.0	30.0	30.0					18																	46163043		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.239delC	18.37:g.46163043delC	ENSP00000256413:p.Ala80fs		B3KTR8|Q8IVD5	Frame_Shift_Del	DEL	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.P82fs	ENST00000256413.3	37	c.239	CCDS11935.1	18																																																																																			CTIF	-	NULL	ENSG00000134030		0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	32	0.00	0	C	NM_014772		46163043	46163043	+1	no_errors	ENST00000382998	ensembl	human	known	69_37n	frame_shift_del	7	53.33	8	DEL	0.778	-
CTRC	11330	genome.wustl.edu	37	1	15771218	15771218	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:15771218G>A	ENST00000375949.4	+	6	637	c.611G>A	c.(610-612)gGg>gAg	p.G204E	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTGCGCTGGGGGCGATGGC	0.602																																						dbGAP											0													106.0	95.0	99.0					1																	15771218		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.611G>A	1.37:g.15771218G>A	ENSP00000365116:p.Gly204Glu		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.G204E	ENST00000375949.4	37	c.611	CCDS156.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520679	0.85495	.	.	ENSG00000162438	ENST00000375949	D	0.90324	-2.65	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96566	0.9419	10	0.87932	D	0	-40.7492	17.3025	0.87186	0.0:0.0:1.0:0.0	.	204	Q99895	CTRC_HUMAN	E	204	ENSP00000365116:G204E	ENSP00000365116:G204E	G	+	2	0	CTRC	15643805	1.000000	0.71417	0.169000	0.22859	0.667000	0.39255	9.270000	0.95690	2.667000	0.90743	0.561000	0.74099	GGG	CTRC	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000162438		0.602	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRC	HGNC	protein_coding	OTTHUMT00000006435.1	90	0.00	0	G	NM_007272		15771218	15771218	+1	no_errors	ENST00000375949	ensembl	human	known	69_37n	missense	15	63.41	26	SNP	0.997	A
CTSS	1520	genome.wustl.edu	37	1	150722569	150722569	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:150722569C>G	ENST00000368985.3	-	6	966	c.706G>C	c.(706-708)Gat>Cat	p.D236H	CTSS_ENST00000448301.2_Missense_Mutation_p.D186H|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	236					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCAGGACATCTTCTCTGCCA	0.393																																						dbGAP											0													106.0	87.0	93.0					1																	150722569		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.706G>C	1.37:g.150722569C>G	ENSP00000357981:p.Asp236His		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.D236H	ENST00000368985.3	37	c.706	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353578	0.24512	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97772	-4.53;1.85	5.71	5.71	0.89125	Peptidase C1A, papain C-terminal (2);	0.976412	0.08456	N	0.943124	D	0.95781	0.8627	L	0.58428	1.81	0.37167	D	0.902884	P;B	0.37688	0.605;0.012	B;B	0.36608	0.229;0.026	D	0.91624	0.5313	10	0.38643	T	0.18	.	18.4299	0.90622	0.0:1.0:0.0:0.0	.	186;236	B4DWC9;P25774	.;CATS_HUMAN	H	186;236	ENSP00000408414:D186H;ENSP00000357981:D236H	ENSP00000357981:D236H	D	-	1	0	CTSS	148989193	0.001000	0.12720	0.989000	0.46669	0.471000	0.32888	0.305000	0.19254	2.701000	0.92244	0.591000	0.81541	GAT	CTSS	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000163131		0.393	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	108	0.00	0	C	NM_004079		150722569	150722569	-1	no_errors	ENST00000368985	ensembl	human	known	69_37n	missense	48	39.24	31	SNP	0.962	G
CTSS	1520	genome.wustl.edu	37	1	150724445	150724445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:150724445delC	ENST00000368985.3	-	5	699	c.439delG	c.(439-441)gccfs	p.A147fs	CTSS_ENST00000448301.2_Frame_Shift_Del_p.A97fs|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	147					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTCCAGGGCCCCCACAGCA	0.473																																						dbGAP											0													82.0	81.0	81.0					1																	150724445		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.439delG	1.37:g.150724445delC	ENSP00000357981:p.Ala147fs		B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Frame_Shift_Del	DEL	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A147fs	ENST00000368985.3	37	c.439	CCDS968.1	1																																																																																			CTSS	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	ENSG00000163131		0.473	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	88	0.00	0	C	NM_004079		150724445	150724445	-1	no_errors	ENST00000368985	ensembl	human	known	69_37n	frame_shift_del	70	31.73	33	DEL	1.000	-
CTTNBP2NL	55917	genome.wustl.edu	37	1	113000008	113000008	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:113000008G>C	ENST00000271277.6	+	6	2119	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	CTTNBP2NL_ENST00000607039.1_Intron	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	632					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGATGTTGAGTTACTTTT	0.478																																						dbGAP											0													85.0	75.0	78.0					1																	113000008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1894G>C	1.37:g.113000008G>C	ENSP00000271277:p.Glu632Gln		B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.E632Q	ENST00000271277.6	37	c.1894	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741247	0.49151	.	.	ENSG00000143079	ENST00000271277	T	0.26810	1.71	5.78	5.78	0.91487	.	0.092488	0.64402	D	0.000001	T	0.17280	0.0415	L	0.29908	0.895	0.58432	D	0.999991	P	0.34562	0.457	B	0.38985	0.287	T	0.04128	-1.0975	10	0.72032	D	0.01	-16.0115	19.6116	0.95608	0.0:0.0:1.0:0.0	.	632	Q9P2B4	CT2NL_HUMAN	Q	632	ENSP00000271277:E632Q	ENSP00000271277:E632Q	E	+	1	0	CTTNBP2NL	112801531	1.000000	0.71417	0.813000	0.32504	0.822000	0.46500	8.001000	0.88508	2.740000	0.93945	0.455000	0.32223	GAG	CTTNBP2NL	-	NULL	ENSG00000143079		0.478	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	37	0.00	0	G	NM_018704		113000008	113000008	+1	no_errors	ENST00000271277	ensembl	human	known	69_37n	missense	7	69.57	16	SNP	0.999	C
CUX1	1523	genome.wustl.edu	37	7	101758493	101758493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:101758493delA	ENST00000292535.7	+	8	652	c.614delA	c.(613-615)gaafs	p.E205fs	CUX1_ENST00000547394.2_Frame_Shift_Del_p.E200fs|CUX1_ENST00000292538.4_Frame_Shift_Del_p.E216fs|CUX1_ENST00000425244.2_Frame_Shift_Del_p.E170fs|CUX1_ENST00000549414.2_Frame_Shift_Del_p.E205fs|CUX1_ENST00000393824.3_Frame_Shift_Del_p.E179fs|CUX1_ENST00000437600.4_Frame_Shift_Del_p.E216fs|CUX1_ENST00000360264.3_Frame_Shift_Del_p.E216fs|CUX1_ENST00000556210.1_Frame_Shift_Del_p.E205fs|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Frame_Shift_Del_p.E205fs|CUX1_ENST00000550008.2_Frame_Shift_Del_p.E205fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	205					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAGCCCTGGAAAAAACTCGA	0.348																																						dbGAP											0													90.0	90.0	90.0					7																	101758493		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.614delA	7.37:g.101758493delA	ENSP00000292535:p.Glu205fs		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Del	DEL	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.T218fs	ENST00000292535.7	37	c.647	CCDS5721.1	7																																																																																			CUX1	-	NULL	ENSG00000257923		0.348	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	87	0.00	0	A	NM_001913		101758493	101758493	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	frame_shift_del	62	30.77	28	DEL	1.000	-
CWF19L2	143884	genome.wustl.edu	37	11	107219706	107219706	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:107219706C>G	ENST00000282251.5	-	14	2186	c.2159G>C	c.(2158-2160)aGa>aCa	p.R720T	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R720T	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	720							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGTAGCTGCTCTATGGTGCTG	0.383																																						dbGAP											0													74.0	73.0	73.0					11																	107219706		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2159G>C	11.37:g.107219706C>G	ENSP00000282251:p.Arg720Thr		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.R720T	ENST00000282251.5	37	c.2159	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	8.033	0.762273	0.15914	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.15256	3.07;2.44	5.86	1.57	0.23409	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.367392	0.32147	N	0.006504	T	0.02807	0.0084	N	0.00321	-1.65	0.22896	N	0.998594	B	0.02656	0.0	B	0.08055	0.003	T	0.43130	-0.9410	10	0.05721	T	0.95	-10.8615	5.4964	0.16805	0.0:0.3415:0.3213:0.3373	.	720	Q2TBE0	C19L2_HUMAN	T	720	ENSP00000282251:R720T;ENSP00000387533:R720T	ENSP00000282251:R720T	R	-	2	0	CWF19L2	106724916	1.000000	0.71417	0.683000	0.30040	0.708000	0.40852	1.436000	0.34980	0.323000	0.23307	-0.150000	0.13652	AGA	CWF19L2	-	pfam_Cwf19-like_C_dom-1,superfamily_HIT-like	ENSG00000152404		0.383	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	86	0.00	0	C	NM_152434		107219706	107219706	-1	no_errors	ENST00000282251	ensembl	human	known	69_37n	missense	34	47.69	31	SNP	0.970	G
RTP5	285093	genome.wustl.edu	37	2	242811980	242811980	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:242811980C>T	ENST00000343216.3	+	1	100	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_173821.2	NP_776182.2																					AGCCCCAGGACGTCTGGGTTC	0.687																																						dbGAP											0													23.0	31.0	28.0					2																	242811980		2025	4183	6208	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000343216.3:c.72C>T	2.37:g.242811980C>T				Silent	SNP	NULL	p.D24	ENST00000343216.3	37	c.72	CCDS42843.1	2																																																																																			CXXC11	-	NULL	ENSG00000188011		0.687	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1	34	0.00	0	C			242811980	242811980	+1	no_errors	ENST00000343216	ensembl	human	known	69_37n	silent	18	25.00	6	SNP	0.049	T
CXorf22	170063	genome.wustl.edu	37	X	35993898	35993898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:35993898C>T	ENST00000297866.5	+	15	2647	c.2581C>T	c.(2581-2583)Cga>Tga	p.R861*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGAGACCACGAGGCTTCTT	0.438																																						dbGAP											0													181.0	156.0	164.0					X																	35993898		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2581C>T	X.37:g.35993898C>T	ENSP00000297866:p.Arg861*		Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	superfamily_PapD-like	p.R861*	ENST00000297866.5	37	c.2581	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	34	5.364837	0.95877	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.14	5.14	0.70334	.	0.908232	0.09382	N	0.809848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.9463	10.2556	0.43394	0.1974:0.8026:0.0:0.0	.	.	.	.	X	861	.	ENSP00000297866:R861X	R	+	1	2	CXorf22	35903819	0.043000	0.20138	0.534000	0.28014	0.063000	0.16089	1.187000	0.32090	2.117000	0.64856	0.600000	0.82982	CGA	CXorf22	-	NULL	ENSG00000165164		0.438	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	88	0.00	0	C	NM_152632		35993898	35993898	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	nonsense	30	60.53	46	SNP	0.291	T
CYB5D2	124936	genome.wustl.edu	37	17	4053207	4053207	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:4053207C>T	ENST00000301391.3	+	2	773	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CYB5D2_ENST00000573984.1_5'UTR|CYB5D2_ENST00000575251.1_5'UTR|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	91	Cytochrome b5 heme-binding.				nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CCAGAGCTTTCGTGACCGGGG	0.507																																						dbGAP											0													108.0	93.0	98.0					17																	4053207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.273C>T	17.37:g.4053207C>T			B2R7R6|D3DTJ9|I3L1K2	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.F91	ENST00000301391.3	37	c.273	CCDS11044.1	17																																																																																			CYB5D2	-	pfam_Cyt_B5,superfamily_Cyt_B5	ENSG00000167740		0.507	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D2	HGNC	protein_coding	OTTHUMT00000438698.1	81	0.00	0	C	NM_144611		4053207	4053207	+1	no_errors	ENST00000301391	ensembl	human	known	69_37n	silent	48	14.29	8	SNP	0.992	T
CYFIP1	23191	genome.wustl.edu	37	15	22926026	22926026	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:22926026C>T	ENST00000313077.7	+	3	293	c.168C>T	c.(166-168)atC>atT	p.I56I	CYFIP1_ENST00000560848.1_Silent_p.I56I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTACTGGCATCGCAAGATACA	0.453																																						dbGAP											0													151.0	133.0	139.0					15																	22926026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.168C>T	15.37:g.22926026C>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.I56	ENST00000313077.7	37	c.168	CCDS10009.1	15																																																																																			CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000068793		0.453	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	118	0.84	1	C	NM_014608		22926026	22926026	+1	no_errors	ENST00000313077	ensembl	human	known	69_37n	silent	37	51.32	39	SNP	0.993	T
CYP2D6	1565	genome.wustl.edu	37	22	42524214	42524214	+	Frame_Shift_Del	DEL	G	G	-	rs367543000		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:42524214delG	ENST00000360608.5	-	5	919	c.805delC	c.(805-807)cgafs	p.R269fs	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Del_p.R269fs|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Del_p.R218fs	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	269					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTCAGGTCTCGGGGGGGCTGG	0.627																																						dbGAP											0													27.0	24.0	25.0					22																	42524214		2195	4296	6491	-	-	-	SO:0001589	frameshift_variant	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.805delC	22.37:g.42524214delG	ENSP00000353820:p.Arg269fs		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R269fs	ENST00000360608.5	37	c.805	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000100197		0.627	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	70	0.00	0	G			42524214	42524214	-1	no_errors	ENST00000360608	ensembl	human	known	69_37n	frame_shift_del	13	37.50	9	DEL	0.947	-
CYP4X1	260293	genome.wustl.edu	37	1	47501732	47501732	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:47501732A>G	ENST00000371901.3	+	6	914	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	CYP4X1_ENST00000538609.1_Missense_Mutation_p.I221V	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	222						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACTCAGCAAAATCATATTTCA	0.378																																						dbGAP											0													130.0	132.0	131.0					1																	47501732		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.664A>G	1.37:g.47501732A>G	ENSP00000360968:p.Ile222Val		G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.I222V	ENST00000371901.3	37	c.664	CCDS544.1	1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155989	0.57259	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.66815	-0.23;-0.23	5.91	4.81	0.61882	.	0.233263	0.40640	N	0.001048	T	0.67135	0.2861	L	0.48642	1.525	0.31862	N	0.620855	P;P	0.42123	0.771;0.532	P;B	0.48334	0.574;0.237	T	0.75331	-0.3355	10	0.66056	D	0.02	.	12.2096	0.54371	0.7362:0.2638:0.0:0.0	.	222;221	Q8N118;G3V1U1	CP4X1_HUMAN;.	V	221;222	ENSP00000445965:I221V;ENSP00000360968:I222V	ENSP00000360968:I222V	I	+	1	0	CYP4X1	47274319	0.611000	0.26992	0.249000	0.24280	0.007000	0.05969	1.008000	0.29872	2.262000	0.75019	0.482000	0.46254	ATC	CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.378	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	121	0.00	0	A	NM_178033		47501732	47501732	+1	no_errors	ENST00000371901	ensembl	human	known	69_37n	missense	59	41.58	42	SNP	0.891	G
DAAM1	23002	genome.wustl.edu	37	14	59789941	59789941	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:59789941C>G	ENST00000395125.1	+	5	795	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	DAAM1_ENST00000351081.1_Missense_Mutation_p.Q258E|DAAM1_ENST00000360909.3_Missense_Mutation_p.Q258E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	258	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GACCCGCTTTCAGGTGGGTGT	0.542																																						dbGAP											0													17.0	17.0	17.0					14																	59789941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.772C>G	14.37:g.59789941C>G	ENSP00000378557:p.Gln258Glu		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.Q258E	ENST00000395125.1	37	c.772	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284134	0.80803	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.83419	-1.72;-1.72;-1.72	6.02	6.02	0.97574	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	L	0.49455	1.56	0.80722	D	1	P;D	0.53885	0.954;0.963	D;D	0.71414	0.954;0.973	D	0.85046	0.0926	10	0.27082	T	0.32	.	20.1323	0.98003	0.0:1.0:0.0:0.0	.	258;258	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	258	ENSP00000354162:Q258E;ENSP00000247170:Q258E;ENSP00000378557:Q258E	ENSP00000247170:Q258E	Q	+	1	0	DAAM1	58859694	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	CAG	DAAM1	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000100592		0.542	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	14	0.00	0	C	NM_014992		59789941	59789941	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	1.000	G
DAAM1	23002	genome.wustl.edu	37	14	59792700	59792700	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:59792700C>T	ENST00000395125.1	+	9	1102	c.1079C>T	c.(1078-1080)gCa>gTa	p.A360V	DAAM1_ENST00000351081.1_Missense_Mutation_p.A360V|DAAM1_ENST00000360909.3_Missense_Mutation_p.A360V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	360	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACAAAAAGTGCAACTCAGATG	0.418																																						dbGAP											0													137.0	112.0	120.0					14																	59792700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1079C>T	14.37:g.59792700C>T	ENSP00000378557:p.Ala360Val		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.A360V	ENST00000395125.1	37	c.1079	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470618	0.84533	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.86865	-2.18;-2.18;-2.18	5.65	5.65	0.86999	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.69463	2.115	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.87972	0.2737	10	0.15066	T	0.55	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	360;360	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	360	ENSP00000354162:A360V;ENSP00000247170:A360V;ENSP00000378557:A360V	ENSP00000247170:A360V	A	+	2	0	DAAM1	58862453	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	GCA	DAAM1	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000100592		0.418	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	102	0.00	0	C	NM_014992		59792700	59792700	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	missense	72	35.14	39	SNP	1.000	T
BRINP1	1620	genome.wustl.edu	37	9	121976415	121976415	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:121976415G>A	ENST00000265922.3	-	6	1165	c.704C>T	c.(703-705)cCt>cTt	p.P235L	BRINP1_ENST00000373964.2_Missense_Mutation_p.P235L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	235	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CAGATACTGAGGAAAGATTAT	0.438																																						dbGAP											0													74.0	67.0	70.0					9																	121976415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.704C>T	9.37:g.121976415G>A	ENSP00000265922:p.Pro235Leu		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.P235L	ENST00000265922.3	37	c.704	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642144	0.87859	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.69926	1.27;-0.44	5.54	5.54	0.83059	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.82006	-0.0671	10	0.62326	D	0.03	-9.3769	18.4665	0.90757	0.0:0.0:1.0:0.0	.	235;235	O60477-2;O60477	.;DBC1_HUMAN	L	235	ENSP00000265922:P235L;ENSP00000363075:P235L	ENSP00000265922:P235L	P	-	2	0	DBC1	121016236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.601000	0.87937	0.655000	0.94253	CCT	DBC1	-	smart_MACPF	ENSG00000078725		0.438	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	57	0.00	0	G	NM_014618		121976415	121976415	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	missense	49	35.53	27	SNP	1.000	A
DCHS1	8642	genome.wustl.edu	37	11	6661920	6661920	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:6661920C>T	ENST00000299441.3	-	2	1336	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGTGTGTGCGTCGATGGAG	0.607																																						dbGAP											0													105.0	95.0	98.0					11																	6661920		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.925G>A	11.37:g.6661920C>T	ENSP00000299441:p.Ala309Thr		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A309T	ENST00000299441.3	37	c.925	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	4.159	0.028022	0.08054	.	.	ENSG00000166341	ENST00000299441	T	0.47869	0.83	5.14	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000294	T	0.33498	0.0865	N	0.21097	0.63	0.09310	N	0.999996	P	0.41345	0.746	B	0.40165	0.321	T	0.24048	-1.0171	10	0.45353	T	0.12	.	10.8978	0.47034	0.1432:0.7179:0.1389:0.0	.	309	Q96JQ0	PCD16_HUMAN	T	309	ENSP00000299441:A309T	ENSP00000299441:A309T	A	-	1	0	DCHS1	6618496	0.005000	0.15991	0.859000	0.33776	0.702000	0.40608	0.128000	0.15810	2.381000	0.81170	0.637000	0.83480	GCA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	61	0.00	0	C	NM_003737		6661920	6661920	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.149	T
DCDC1	341019	genome.wustl.edu	37	11	30937125	30937125	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:30937125C>G	ENST00000597505.1	-	25	3585	c.3586G>C	c.(3586-3588)Gag>Cag	p.E1196Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E275Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAAACCACCTCCATGCCTGAT	0.463																																						dbGAP											0													150.0	133.0	139.0					11																	30937125		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3586G>C	11.37:g.30937125C>G	ENSP00000472625:p.Glu1196Gln		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.E275Q	ENST00000597505.1	37	c.823		11	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276436	0.59649	.	.	ENSG00000170959	ENST00000339794	T	0.49139	0.79	5.56	5.56	0.83823	Ricin B-related lectin (1);Ricin B lectin (2);	0.122958	0.35646	N	0.003064	T	0.56891	0.2016	L	0.34521	1.04	0.27048	N	0.96385	D	0.69078	0.997	D	0.66497	0.944	T	0.52351	-0.8587	10	0.42905	T	0.14	-14.1718	16.438	0.83884	0.0:1.0:0.0:0.0	.	275	Q6ZRR9	DCDC5_HUMAN	Q	275	ENSP00000341700:E275Q	ENSP00000341700:E275Q	E	-	1	0	DCDC5	30893701	0.192000	0.23301	0.876000	0.34364	0.239000	0.25481	1.080000	0.30779	2.615000	0.88500	0.655000	0.94253	GAG	DCDC5	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000170959		0.463	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000463167.1	121	0.00	0	C	NM_181807		30937125	30937125	-1	no_errors	ENST00000339794	ensembl	human	known	69_37n	missense	46	51.58	49	SNP	0.935	G
DCST2	127579	genome.wustl.edu	37	1	155001812	155001812	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:155001812G>C	ENST00000368424.3	-	8	1297	c.1239C>G	c.(1237-1239)atC>atG	p.I413M	DCST2_ENST00000295536.5_Missense_Mutation_p.I413M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	413						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGTGTCGGATAAGGTTGA	0.552																																						dbGAP											0													145.0	135.0	138.0					1																	155001812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1239C>G	1.37:g.155001812G>C	ENSP00000357409:p.Ile413Met		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.I413M	ENST00000368424.3	37	c.1239	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132827	0.37630	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.31247	1.5;1.5	5.09	-0.885	0.10593	Dendritic cell-specific transmembrane protein-like (1);	1.771340	0.03545	N	0.224530	T	0.08980	0.0222	L	0.40543	1.245	0.18873	N	0.999981	B	0.16396	0.017	B	0.13407	0.009	T	0.25398	-1.0133	10	0.33940	T	0.23	-1.0348	5.8572	0.18727	0.0802:0.4708:0.3256:0.1234	.	413	Q5T1A1	DCST2_HUMAN	M	413	ENSP00000357409:I413M;ENSP00000295536:I413M	ENSP00000295536:I413M	I	-	3	3	DCST2	153268436	0.001000	0.12720	0.014000	0.15608	0.924000	0.55760	-0.578000	0.05841	-0.467000	0.06932	0.462000	0.41574	ATC	DCST2	-	pfam_DC_STAMP-like	ENSG00000163354		0.552	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	44	0.00	0	G	NM_144622		155001812	155001812	-1	no_errors	ENST00000368424	ensembl	human	known	69_37n	missense	54	34.15	28	SNP	0.064	C
DDX23	9416	genome.wustl.edu	37	12	49230685	49230685	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:49230685C>T	ENST00000308025.3	-	9	1081	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	334					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACTCCTCCTGCTCCTTTTCTT	0.532																																						dbGAP											0													307.0	323.0	318.0					12																	49230685		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1002G>A	12.37:g.49230685C>T			B2R600|B4DH15|O43188	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E334	ENST00000308025.3	37	c.1002	CCDS8770.1	12																																																																																			DDX23	-	NULL	ENSG00000174243		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	140	0.00	0	C	NM_004818		49230685	49230685	-1	no_errors	ENST00000308025	ensembl	human	known	69_37n	silent	78	36.59	45	SNP	1.000	T
DDX31	64794	genome.wustl.edu	37	9	135534114	135534114	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:135534114G>C	ENST00000372159.3	-	6	998	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000438527.3_Missense_Mutation_p.L154V|DDX31_ENST00000310532.2_Missense_Mutation_p.L283V|DDX31_ENST00000372153.1_Missense_Mutation_p.L283V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	283	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CAATAGGCAAGAGTTTTACCT	0.378																																						dbGAP											0													121.0	115.0	117.0					9																	135534114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.847C>G	9.37:g.135534114G>C	ENSP00000361232:p.Leu283Val		Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L283V	ENST00000372159.3	37	c.847	CCDS6951.1	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127132	0.77549	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.51574	2.3;0.7;2.3;0.7	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.060608	0.64402	D	0.000002	T	0.74045	0.3665	M	0.88105	2.93	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.71656	0.948;0.974;0.942	T	0.78427	-0.2208	10	0.87932	D	0	-17.6375	17.4545	0.87603	0.0:0.0:1.0:0.0	.	283;283;283	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	V	283;283;283;154;283	ENSP00000361232:L283V;ENSP00000361226:L283V;ENSP00000387730:L154V;ENSP00000310539:L283V	ENSP00000310539:L283V	L	-	1	0	DDX31	134523935	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.244000	0.78228	2.793000	0.96121	0.655000	0.94253	CTT	DDX31	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000125485		0.378	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DDX31	HGNC	protein_coding	OTTHUMT00000054794.1	126	0.00	0	G	NM_138620		135534114	135534114	-1	no_errors	ENST00000372159	ensembl	human	known	69_37n	missense	83	34.13	43	SNP	1.000	C
DDX60	55601	genome.wustl.edu	37	4	169195233	169195233	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:169195233C>T	ENST00000393743.3	-	17	2597	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	769					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R769Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAGGAGCTCTCGCTGCAGGGT	0.438																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											119.0	113.0	115.0					4																	169195233		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2305-1G>A	4.37:g.169195233C>T			Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R769Q	ENST00000393743.3	37	c.2306	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720081	0.68844	.	.	ENSG00000137628	ENST00000393743	T	0.14766	2.48	5.06	4.21	0.49690	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.209202	0.27478	N	0.019200	T	0.17959	0.0431	L	0.55743	1.74	0.38568	D	0.949871	P	0.48162	0.906	P	0.44897	0.463	T	0.04537	-1.0944	10	0.44086	T	0.13	.	13.4971	0.61432	0.0:0.9228:0.0:0.0772	.	769	Q8IY21	DDX60_HUMAN	Q	769	ENSP00000377344:R769Q	ENSP00000377344:R769Q	R	-	2	0	DDX60	169431808	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.268000	0.51585	1.264000	0.44198	0.557000	0.71058	CGA	DDX60	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd	ENSG00000137628		0.438	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	86	0.00	0	C	NM_017631	Missense_Mutation	169195233	169195233	-1	no_errors	ENST00000393743	ensembl	human	known	69_37n	missense	36	54.43	43	SNP	1.000	T
DDX60	55601	genome.wustl.edu	37	4	169206004	169206004	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:169206004C>G	ENST00000393743.3	-	12	1819	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	510					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCATAATCATCACTCAGGGGT	0.373																																						dbGAP											0													106.0	103.0	104.0					4																	169206004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1528G>C	4.37:g.169206004C>G	ENSP00000377344:p.Asp510His		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D510H	ENST00000393743.3	37	c.1528	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956434	0.53293	.	.	ENSG00000137628	ENST00000393743	T	0.22945	1.93	5.14	5.14	0.70334	.	0.082568	0.51477	D	0.000084	T	0.52629	0.1746	M	0.76328	2.33	0.45676	D	0.998597	D	0.89917	1.0	D	0.71414	0.973	T	0.55315	-0.8160	10	0.62326	D	0.03	.	18.557	0.91089	0.0:1.0:0.0:0.0	.	510	Q8IY21	DDX60_HUMAN	H	510	ENSP00000377344:D510H	ENSP00000377344:D510H	D	-	1	0	DDX60	169442579	1.000000	0.71417	0.992000	0.48379	0.254000	0.26022	4.617000	0.61204	2.566000	0.86566	0.455000	0.32223	GAT	DDX60	-	NULL	ENSG00000137628		0.373	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	98	0.00	0	C	NM_017631		169206004	169206004	-1	no_errors	ENST00000393743	ensembl	human	known	69_37n	missense	35	53.25	41	SNP	1.000	G
DENND4B	9909	genome.wustl.edu	37	1	153914454	153914454	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:153914454G>A	ENST00000361217.4	-	6	1364	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	316	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGATGGCACGCCGGCTGCGC	0.706																																						dbGAP											0													27.0	33.0	31.0					1																	153914454		2159	4238	6397	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.946C>T	1.37:g.153914454G>A	ENSP00000354597:p.Arg316Cys		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R316C	ENST00000361217.4	37	c.946	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410558	0.62399	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12465	2.68;2.68	4.39	2.43	0.29744	DENN (3);	0.245103	0.33309	N	0.005054	T	0.11367	0.0277	L	0.32530	0.975	0.48236	D	0.999619	D	0.89917	1.0	P	0.58928	0.848	T	0.02244	-1.1189	10	0.87932	D	0	-11.7507	11.3048	0.49329	0.0:0.0:0.3903:0.6097	.	316	O75064	DEN4B_HUMAN	C	316;327	ENSP00000354597:R316C;ENSP00000357635:R327C	ENSP00000354597:R316C	R	-	1	0	DENND4B	152181078	0.341000	0.24801	0.058000	0.19502	0.837000	0.47467	1.182000	0.32029	0.444000	0.26612	0.462000	0.41574	CGT	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.706	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	37	0.00	0	G	XM_375806		153914454	153914454	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.867	A
DFNB31	25861	genome.wustl.edu	37	9	117228550	117228550	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:117228550G>C	ENST00000362057.3	-	3	1128	c.960C>G	c.(958-960)ctC>ctG	p.L320L	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	320	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTCACCTTGAGCCCGCTGC	0.587																																						dbGAP											0													82.0	77.0	79.0					9																	117228550		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.960C>G	9.37:g.117228550G>C			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L320	ENST00000362057.3	37	c.960	CCDS6806.1	9																																																																																			DFNB31	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000095397		0.587	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	57	0.00	0	G	NM_015404		117228550	117228550	-1	no_errors	ENST00000362057	ensembl	human	known	69_37n	silent	25	34.21	13	SNP	1.000	C
DGUOK	1716	genome.wustl.edu	37	2	74177789	74177789	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:74177789C>G	ENST00000264093.4	+	4	606	c.521C>G	c.(520-522)tCt>tGt	p.S174C	DGUOK_ENST00000356837.6_Missense_Mutation_p.S152C|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000462685.1_3'UTR	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	174					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GACTGGCATTCTTTTCTCCTG	0.453																																						dbGAP											0													259.0	258.0	258.0					2																	74177789		2203	4300	6503	-	-	-	SO:0001583	missense	0			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.521C>G	2.37:g.74177789C>G	ENSP00000264093:p.Ser174Cys		P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.S174C	ENST00000264093.4	37	c.521	CCDS1931.1	2	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996141	0.35226	.	.	ENSG00000114956	ENST00000264093;ENST00000356837;ENST00000347161	D;D	0.98075	-4.7;-4.7	5.67	4.78	0.61160	.	0.290571	0.39615	N	0.001304	D	0.98105	0.9375	M	0.70595	2.14	0.46028	D	0.998826	D	0.71674	0.998	P	0.60415	0.874	D	0.98595	1.0656	10	0.87932	D	0	-5.4806	14.6758	0.68978	0.153:0.847:0.0:0.0	.	174	Q16854	DGUOK_HUMAN	C	174;152;136	ENSP00000264093:S174C;ENSP00000349294:S152C	ENSP00000264093:S174C	S	+	2	0	DGUOK	74031297	0.687000	0.27671	0.874000	0.34290	0.475000	0.33008	2.350000	0.44063	1.361000	0.45981	0.563000	0.77884	TCT	DGUOK	-	pfam_Deoxynucleoside_kinase	ENSG00000114956		0.453	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	144	0.00	0	C			74177789	74177789	+1	no_errors	ENST00000264093	ensembl	human	known	69_37n	missense	149	24.75	49	SNP	0.973	G
DGKD	8527	genome.wustl.edu	37	2	234359584	234359584	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:234359584T>A	ENST00000264057.2	+	17	2067	c.2055T>A	c.(2053-2055)tgT>tgA	p.C685*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.C641*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	685					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AATCTCCGTGTGAAAAGCTGA	0.557																																						dbGAP											0													165.0	153.0	157.0					2																	234359584		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2055T>A	2.37:g.234359584T>A	ENSP00000264057:p.Cys685*		Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.C685*	ENST00000264057.2	37	c.2055	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	T	18.48	3.634222	0.67130	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.0	-1.19	0.09585	.	0.126882	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.7574	0.28932	0.0:0.3569:0.0:0.6431	.	.	.	.	X	685;641	.	ENSP00000264057:C685X	C	+	3	2	DGKD	234024323	1.000000	0.71417	0.820000	0.32676	0.501000	0.33797	0.702000	0.25631	-0.291000	0.09012	0.533000	0.62120	TGT	DGKD	-	NULL	ENSG00000077044		0.557	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	101	0.00	0	T	NM_003648		234359584	234359584	+1	no_errors	ENST00000264057	ensembl	human	known	69_37n	nonsense	42	40.00	28	SNP	0.998	A
DHRSX	207063	genome.wustl.edu	37	X	2343248	2343248	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:2343248A>G	ENST00000334651.5	-	2	259	c.207T>C	c.(205-207)caT>caC	p.H69H		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	69							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTATGATAACATGCATGCCAA	0.468													A|||	2	0.000399361	0.0	0.0	5008	,	,		20040	0.0		0.002	False		,,,				2504	0.0					dbGAP											0													205.0	181.0	189.0					X																	2343248		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.207T>C	X.37:g.2343248A>G			Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR	p.M126T	ENST00000334651.5	37	c.377	CCDS35195.1	X																																																																																			DHRSX	-	pfam_DH_sc/Rdtase_SDR	ENSG00000169084		0.468	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	193	0.00	0	A	NM_145177		2343248	2343248	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000478825	ensembl	human	known	69_37n	missense	86	39.01	55	SNP	0.995	G
DHTKD1	55526	genome.wustl.edu	37	10	12126594	12126594	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:12126594C>G	ENST00000263035.4	+	3	428	c.366C>G	c.(364-366)ctC>ctG	p.L122L	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	122					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TAGTCTATCTCAATCAAATCT	0.413																																						dbGAP											0													129.0	125.0	127.0					10																	12126594		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.366C>G	10.37:g.12126594C>G			Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.L122	ENST00000263035.4	37	c.366	CCDS7087.1	10																																																																																			DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.413	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	82	0.00	0	C	NM_018706		12126594	12126594	+1	no_errors	ENST00000263035	ensembl	human	known	69_37n	silent	36	36.84	21	SNP	0.998	G
DHX29	54505	genome.wustl.edu	37	5	54579162	54579162	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:54579162C>G	ENST00000251636.5	-	11	1982	c.1834G>C	c.(1834-1836)Gat>Cat	p.D612H	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	612	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGAAGCAAATCTTCCAATAGA	0.418																																						dbGAP											0													98.0	98.0	98.0					5																	54579162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1834G>C	5.37:g.54579162C>G	ENSP00000251636:p.Asp612His		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D612H	ENST00000251636.5	37	c.1834	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493374	0.44352	.	.	ENSG00000067248	ENST00000251636	T	0.06608	3.28	5.86	4.99	0.66335	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.043339	0.85682	D	0.000000	T	0.10380	0.0254	N	0.16307	0.4	0.58432	D	0.999999	D	0.55605	0.972	P	0.55615	0.78	T	0.22208	-1.0223	10	0.49607	T	0.09	.	16.2902	0.82747	0.1337:0.8663:0.0:0.0	.	612	Q7Z478	DHX29_HUMAN	H	612	ENSP00000251636:D612H	ENSP00000251636:D612H	D	-	1	0	DHX29	54614919	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	7.456000	0.80751	1.463000	0.47967	-0.293000	0.09583	GAT	DHX29	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000067248		0.418	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	81	0.00	0	C	NM_019030		54579162	54579162	-1	no_errors	ENST00000251636	ensembl	human	known	69_37n	missense	77	25.96	27	SNP	1.000	G
DHX57	90957	genome.wustl.edu	37	2	39081307	39081307	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:39081307C>T	ENST00000295373.6	-	9	2045	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	640	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTATAACAGTCTGGTGGCTGA	0.393																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											0													91.0	85.0	87.0					2																	39081307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1919G>A	2.37:g.39081307C>T	ENSP00000295373:p.Arg640Lys		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R640K	ENST00000295373.6	37	c.1919	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.792992	0.96952	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000020	T	0.25121	0.0610	L	0.52126	1.63	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.972	D;D;P	0.76071	0.987;0.966;0.823	T	0.00136	-1.2006	10	0.27785	T	0.31	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	640;640;32	Q6P158;B4DKW2;Q59G60	DHX57_HUMAN;.;.	K	640	ENSP00000295373:R640K	ENSP00000295373:R640K	R	-	2	0	DHX57	38934811	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.711000	0.84669	2.826000	0.97356	0.655000	0.94253	AGA	DHX57	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000163214		0.393	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	87	0.00	0	C	NM_145646		39081307	39081307	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	missense	78	36.59	45	SNP	1.000	T
DHX57	90957	genome.wustl.edu	37	2	39082249	39082249	+	Missense_Mutation	SNP	C	C	T	rs571716433		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:39082249C>T	ENST00000295373.6	-	8	1981	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	619	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCCACCCTCTCTGCTCTTTCT	0.463																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											0													283.0	281.0	281.0					2																	39082249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1855G>A	2.37:g.39082249C>T	ENSP00000295373:p.Glu619Lys		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E619K	ENST00000295373.6	37	c.1855	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.793988	0.96952	.	.	ENSG00000163214	ENST00000295373	T	0.07688	3.17	5.5	5.5	0.81552	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.53938	D	0.000050	T	0.42471	0.1204	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.992;0.997	T	0.54814	-0.8237	10	0.72032	D	0.01	.	19.7622	0.96325	0.0:1.0:0.0:0.0	.	619;619;619	Q6P158-2;Q6P158;B4DKW2	.;DHX57_HUMAN;.	K	619	ENSP00000295373:E619K	ENSP00000295373:E619K	E	-	1	0	DHX57	38935753	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.669000	0.83911	2.732000	0.93576	0.650000	0.86243	GAG	DHX57	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000163214		0.463	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	132	0.00	0	C	NM_145646		39082249	39082249	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	missense	78	38.10	48	SNP	1.000	T
DHX57	90957	genome.wustl.edu	37	2	39083579	39083579	+	Silent	SNP	G	G	A	rs373391329		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:39083579G>A	ENST00000295373.6	-	7	1738	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	538							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTCTCTTGCAGAATGGACTGG	0.388																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											0													121.0	115.0	117.0					2																	39083579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1612C>T	2.37:g.39083579G>A			A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L538	ENST00000295373.6	37	c.1612	CCDS1800.1	2																																																																																			DHX57	-	NULL	ENSG00000163214		0.388	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	76	0.00	0	G	NM_145646		39083579	39083579	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	silent	54	25.00	18	SNP	1.000	A
DHX57	90957	genome.wustl.edu	37	2	39088557	39088557	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:39088557C>T	ENST00000295373.6	-	5	1121	c.995G>A	c.(994-996)gGa>gAa	p.G332E	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	332							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTCTATTCTTCCAACAATTTG	0.299																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											0													58.0	58.0	58.0					2																	39088557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.995G>A	2.37:g.39088557C>T	ENSP00000295373:p.Gly332Glu		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G332E	ENST00000295373.6	37	c.995	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923042	0.33908	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02525	4.26	5.78	4.88	0.63580	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.115152	0.39210	N	0.001438	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	D;P	0.61080	0.989;0.669	P;B	0.55545	0.778;0.355	T	0.35001	-0.9806	10	0.02654	T	1	.	7.3253	0.26551	0.15:0.7281:0.0:0.1219	.	332;332	Q6P158-2;Q6P158	.;DHX57_HUMAN	E	332;230	ENSP00000295373:G332E	ENSP00000295373:G332E	G	-	2	0	DHX57	38942061	0.209000	0.23505	0.998000	0.56505	0.972000	0.66771	0.655000	0.24933	1.397000	0.46682	0.563000	0.77884	GGA	DHX57	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000163214		0.299	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	88	0.00	0	C	NM_145646		39088557	39088557	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	missense	83	33.06	41	SNP	0.031	T
DLGAP2	9228	genome.wustl.edu	37	8	1497432	1497432	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:1497432C>T	ENST00000421627.2	+	2	707	c.573C>T	c.(571-573)caC>caT	p.H191H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	270					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.H213Q(1)|p.H235Q(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGCCCACCACGCCAAGCACA	0.667																																						dbGAP											2	Substitution - Missense(2)	lung(2)											19.0	27.0	24.0					8																	1497432		2191	4289	6480	-	-	-	SO:0001819	synonymous_variant	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.573C>T	8.37:g.1497432C>T			A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.T208M	ENST00000421627.2	37	c.623	CCDS47760.1	8	.	.	.	.	.	.	.	.	.	.	C	2.949	-0.217250	0.06101	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.57	-2.7	0.06004	.	.	.	.	.	T	0.49795	0.1578	.	.	.	0.33100	D	0.539144	.	.	.	.	.	.	T	0.58200	-0.7678	4	.	.	.	-4.2151	12.4159	0.55494	0.0:0.405:0.0:0.595	.	.	.	.	M	208	.	.	T	+	2	0	DLGAP2	1484839	0.053000	0.20554	0.000000	0.03702	0.532000	0.34746	-0.007000	0.12810	-0.493000	0.06678	-0.136000	0.14681	ACG	DLGAP2	-	NULL	ENSG00000198010		0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	13	0.00	0	C	NM_004745		1497432	1497432	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520901	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.002	T
DMAP1	55929	genome.wustl.edu	37	1	44684860	44684860	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:44684860G>A	ENST00000372289.2	+	6	1116	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	DMAP1_ENST00000315913.5_Missense_Mutation_p.E285K|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Missense_Mutation_p.E285K	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	285					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCGGCGCACGGAACGCAAGGC	0.627																																						dbGAP											0													49.0	54.0	52.0					1																	44684860		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.853G>A	1.37:g.44684860G>A	ENSP00000361363:p.Glu285Lys		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.E285K	ENST00000372289.2	37	c.853	CCDS509.1	1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880577	0.51801	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000315913;ENST00000372289	.	.	.	5.53	4.61	0.57282	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.56769	1.78	0.80722	D	1	P;P	0.35982	0.531;0.531	B;B	0.40565	0.333;0.333	T	0.47100	-0.9143	9	0.07813	T	0.8	-2.7921	13.7682	0.63008	0.0737:0.0:0.9263:0.0	.	275;285	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	K	285	.	ENSP00000312697:E285K	E	+	1	0	DMAP1	44457447	1.000000	0.71417	0.920000	0.36463	0.983000	0.72400	7.607000	0.82883	2.606000	0.88127	0.591000	0.81541	GAA	DMAP1	-	pfam_DMAP1	ENSG00000178028		0.627	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3	32	0.00	0	G	NM_019100		44684860	44684860	+1	no_errors	ENST00000315913	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	0.998	A
DMGDH	29958	genome.wustl.edu	37	5	78351683	78351683	+	Missense_Mutation	SNP	G	G	A	rs181658715	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:78351683G>A	ENST00000255189.3	-	3	353	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	109			H -> R (in DMGDHD; dbSNP:rs121908331). {ECO:0000269|PubMed:11231903}.		amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTATCATAATGTATTTTCTTC	0.328													G|||	2	0.000399361	0.0	0.0	5008	,	,		19706	0.001		0.001	False		,,,				2504	0.0					dbGAP											0													91.0	94.0	93.0					5																	78351683		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.325C>T	5.37:g.78351683G>A	ENSP00000255189:p.His109Tyr		B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.H109Y	ENST00000255189.3	37	c.325	CCDS4044.1	5	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	17.12	3.307977	0.60305	.	.	ENSG00000132837	ENST00000255189	T	0.81078	-1.45	6.03	6.03	0.97812	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.52364	1.645	0.80722	D	1	B	0.26400	0.148	B	0.30401	0.115	T	0.70945	-0.4734	10	0.02654	T	1	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	109	Q9UI17	M2GD_HUMAN	Y	109	ENSP00000255189:H109Y	ENSP00000255189:H109Y	H	-	1	0	DMGDH	78387439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.701000	0.98710	2.868000	0.98415	0.557000	0.71058	CAT	DMGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000132837		0.328	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3	129	0.00	0	G	NM_013391		78351683	78351683	-1	no_errors	ENST00000255189	ensembl	human	known	69_37n	missense	149	30.70	66	SNP	1.000	A
DMXL1	1657	genome.wustl.edu	37	5	118479553	118479553	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:118479553C>G	ENST00000311085.8	+	14	2474	c.2394C>G	c.(2392-2394)gtC>gtG	p.V798V	DMXL1_ENST00000539542.1_Silent_p.V798V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	798										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTGGTGAAGTCTTTAACATCG	0.303																																						dbGAP											0													106.0	112.0	110.0					5																	118479553		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2394C>G	5.37:g.118479553C>G				Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V798	ENST00000311085.8	37	c.2394	CCDS4125.1	5																																																																																			DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.303	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	104	0.00	0	C	NM_005509		118479553	118479553	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	silent	88	32.31	42	SNP	0.966	G
DNAH10	196385	genome.wustl.edu	37	12	124398954	124398954	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:124398954C>T	ENST00000409039.3	+	60	10102	c.10077C>T	c.(10075-10077)ctC>ctT	p.L3359L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3359					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGCTTTCCTCAGCTACGAGG	0.622																																						dbGAP											0													58.0	65.0	63.0					12																	124398954		2045	4200	6245	-	-	-	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10077C>T	12.37:g.124398954C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	NULL	p.S287L	ENST00000409039.3	37	c.860	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	1.605	-0.525477	0.04141	.	.	ENSG00000197653	ENST00000540041	.	.	.	5.28	1.19	0.21007	.	.	.	.	.	T	0.71796	0.3382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71087	-0.4694	4	.	.	.	.	18.1291	0.89596	0.0:0.4899:0.5101:0.0	.	.	.	.	L	287	.	.	S	+	2	0	DNAH10	122964907	1.000000	0.71417	0.997000	0.53966	0.135000	0.20990	1.513000	0.35823	-0.061000	0.13110	-0.228000	0.12330	TCA	DNAH10	-	NULL	ENSG00000197653		0.622	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	48	0.00	0	C			124398954	124398954	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540041	ensembl	human	putative	69_37n	missense	39	27.78	15	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21847542	21847542	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:21847542C>G	ENST00000409508.3	+	63	10238	c.10207C>G	c.(10207-10209)Caa>Gaa	p.Q3403E	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q3410E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3410	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTTGAAGCTCAAGAGAAGAC	0.473									Kartagener syndrome																													dbGAP											0													78.0	76.0	77.0					7																	21847542		1895	4116	6011	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10207C>G	7.37:g.21847542C>G	ENSP00000475939:p.Gln3403Glu		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Q3410E	ENST00000409508.3	37	c.10228		7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290167	0.80914	.	.	ENSG00000105877	ENST00000328843	T	0.78481	-1.18	6.02	6.02	0.97574	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83835	0.0254	9	0.30078	T	0.28	.	15.6482	0.77070	0.0:0.933:0.0:0.067	.	3410	Q96DT5	DYH11_HUMAN	E	3410	ENSP00000330671:Q3410E	ENSP00000330671:Q3410E	Q	+	1	0	DNAH11	21814067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.948000	0.63590	2.865000	0.98341	0.655000	0.94253	CAA	DNAH11	-	NULL	ENSG00000105877		0.473	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	83	0.00	0	C	NM_003777		21847542	21847542	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	1.000	G
DNAH7	56171	genome.wustl.edu	37	2	196636482	196636482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:196636482G>A	ENST00000312428.6	-	61	11435	c.11335C>T	c.(11335-11337)Cag>Tag	p.Q3779*	DNAH7_ENST00000409063.1_Nonsense_Mutation_p.Q262*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3779					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCATGCTCTGAGTATAAGTT	0.428																																						dbGAP											0													287.0	266.0	273.0					2																	196636482		2003	4157	6160	-	-	-	SO:0001587	stop_gained	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11335C>T	2.37:g.196636482G>A	ENSP00000311273:p.Gln3779*		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.Q3779*	ENST00000312428.6	37	c.11335	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.181565	0.97352	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.2425	0.89971	0.0:0.0:1.0:0.0	.	.	.	.	X	3779;262	.	ENSP00000311273:Q3779X	Q	-	1	0	DNAH7	196344727	1.000000	0.71417	0.987000	0.45799	0.949000	0.60115	4.629000	0.61290	2.630000	0.89119	0.655000	0.94253	CAG	DNAH7	-	pfam_Dynein_heavy	ENSG00000118997		0.428	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	203	0.00	0	G	NM_018897		196636482	196636482	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	nonsense	178	30.47	78	SNP	1.000	A
DNAJB14	79982	genome.wustl.edu	37	4	100867604	100867604	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:100867604G>A	ENST00000442697.2	-	1	279	c.125C>T	c.(124-126)tCg>tTg	p.S42L	DNAJB14_ENST00000471738.1_5'UTR|H2AFZ_ENST00000529158.1_5'Flank	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	42						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		ACCGCGGGCCGAGGGCAGTGG	0.692																																						dbGAP											0													55.0	52.0	53.0					4																	100867604		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.125C>T	4.37:g.100867604G>A	ENSP00000404381:p.Ser42Leu		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S42L	ENST00000442697.2	37	c.125	CCDS34035.1	4	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153194	0.57259	.	.	ENSG00000164031	ENST00000442697	T	0.64260	-0.09	4.22	3.37	0.38596	.	0.781182	0.11336	N	0.574538	T	0.45756	0.1358	N	0.12961	0.28	0.23150	N	0.998215	B;B	0.16802	0.019;0.0	B;B	0.12156	0.007;0.0	T	0.35549	-0.9784	10	0.42905	T	0.14	.	11.7081	0.51610	0.0:0.0:0.6792:0.3208	.	42;42	F2Z2L8;Q8TBM8	.;DJB14_HUMAN	L	42	ENSP00000404381:S42L	ENSP00000335249:S42L	S	-	2	0	DNAJB14	101086627	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	2.780000	0.47742	0.881000	0.35993	0.579000	0.79373	TCG	DNAJB14	-	NULL	ENSG00000164031		0.692	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB14	HGNC	protein_coding	OTTHUMT00000253696.2	65	0.00	0	G	NM_001031723.2		100867604	100867604	-1	no_errors	ENST00000442697	ensembl	human	known	69_37n	missense	29	57.35	39	SNP	0.984	A
DNAJC10	54431	genome.wustl.edu	37	2	183624001	183624001	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:183624001G>A	ENST00000264065.7	+	21	2527	c.2112G>A	c.(2110-2112)caG>caA	p.Q704Q		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	704	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GACCTTGCCAGAATTTTGCTC	0.373																																					Pancreas(56;860 1183 25669 35822 48585)	dbGAP											0													107.0	104.0	105.0					2																	183624001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2112G>A	2.37:g.183624001G>A			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ,prints_Thioredoxin,pfscan_DnaJ_N	p.Q704	ENST00000264065.7	37	c.2112	CCDS33345.1	2																																																																																			DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C,prints_Thioredoxin	ENSG00000077232		0.373	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	157	0.00	0	G	NM_018981		183624001	183624001	+1	no_errors	ENST00000264065	ensembl	human	known	69_37n	silent	118	36.90	69	SNP	0.960	A
DNASE1L3	1776	genome.wustl.edu	37	3	58183604	58183604	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:58183604C>T	ENST00000394549.2	-	6	964	c.648G>A	c.(646-648)ctG>ctA	p.L216L	DNASE1L3_ENST00000486455.1_Silent_p.L186L|DNASE1L3_ENST00000483681.1_Silent_p.L216L|DNASE1L3_ENST00000318316.3_Silent_p.L216L	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	216					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGTCCCCGATCAGCCAAACAA	0.557																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	dbGAP											0													141.0	124.0	130.0					3																	58183604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.648G>A	3.37:g.58183604C>T			B2R8B1|B7Z707|O75803	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.L216	ENST00000394549.2	37	c.648	CCDS2886.1	3																																																																																			DNASE1L3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	ENSG00000163687		0.557	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1	138	0.00	0	C	NM_004944		58183604	58183604	-1	no_errors	ENST00000318316	ensembl	human	known	69_37n	silent	35	61.54	56	SNP	1.000	T
DNMT3A	1788	genome.wustl.edu	37	2	25523047	25523047	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:25523047C>T	ENST00000264709.3	-	3	475	c.138G>A	c.(136-138)cgG>cgA	p.R46R	DNMT3A_ENST00000406659.3_Silent_p.R46R|DNMT3A_ENST00000321117.5_Silent_p.R46R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	46					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCACCTTCCGTGCCGTGG	0.662			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													88.0	70.0	76.0					2																	25523047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.138G>A	2.37:g.25523047C>T			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.R46	ENST00000264709.3	37	c.138	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.662	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	71	0.00	0	C	NM_022552		25523047	25523047	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	silent	47	25.40	16	SNP	0.999	T
DOCK9	23348	genome.wustl.edu	37	13	99508157	99508157	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:99508157C>A	ENST00000376460.1	-	34	3906	c.3826G>T	c.(3826-3828)Gat>Tat	p.D1276Y	DOCK9_ENST00000339416.2_Missense_Mutation_p.D1277Y|DOCK9_ENST00000448493.2_Missense_Mutation_p.D1288Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1277					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTACCTTATCCAGGGAATTG	0.398																																						dbGAP											0													171.0	163.0	165.0					13																	99508157		1855	4104	5959	-	-	-	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3826G>T	13.37:g.99508157C>A	ENSP00000365643:p.Asp1276Tyr		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1277Y	ENST00000376460.1	37	c.3829	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536474	0.85812	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000449796	T;T;T;T	0.46451	2.39;2.47;2.05;0.87	5.76	5.76	0.90799	.	0.142496	0.64402	D	0.000006	T	0.52789	0.1756	L	0.40543	1.245	0.80722	D	1	D;B;B	0.65815	0.995;0.01;0.351	P;B;B	0.55577	0.779;0.041;0.125	T	0.52487	-0.8569	10	0.72032	D	0.01	-12.8059	19.9576	0.97228	0.0:1.0:0.0:0.0	.	1277;1276;1277	A8MWZ5;Q9BZ29-5;Q9BZ29	.;.;DOCK9_HUMAN	Y	1276;1277;1277;1277;1276;207;1277;1288;28	ENSP00000365643:D1276Y;ENSP00000341086:D1277Y;ENSP00000401958:D1288Y;ENSP00000403528:D28Y	ENSP00000341086:D1277Y	D	-	1	0	DOCK9	98306158	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.463000	0.80869	2.736000	0.93811	0.655000	0.94253	GAT	DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.398	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	142	0.00	0	C	NM_015296		99508157	99508157	-1	no_errors	ENST00000339416	ensembl	human	known	69_37n	missense	63	39.42	41	SNP	1.000	A
DPY19L2	283417	genome.wustl.edu	37	12	63963127	63963127	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:63963127G>C	ENST00000324472.4	-	21	2186	c.2003C>G	c.(2002-2004)gCt>gGt	p.A668G	DPY19L2_ENST00000413230.2_Missense_Mutation_p.A115G	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	668					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTTTGTCCGAGCCCtttaaat	0.249																																						dbGAP											0													35.0	41.0	39.0					12																	63963127		2194	4278	6472	-	-	-	SO:0001583	missense	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2003C>G	12.37:g.63963127G>C	ENSP00000315988:p.Ala668Gly		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	pfam_Dpy-19	p.A668G	ENST00000324472.4	37	c.2003	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059396	0.36373	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.55930	0.49;0.49	3.52	3.52	0.40303	.	0.056249	0.64402	D	0.000001	T	0.67711	0.2922	M	0.77820	2.39	0.45477	D	0.998449	D	0.56035	0.974	P	0.60789	0.879	T	0.71073	-0.4698	9	.	.	.	.	12.5855	0.56414	0.0:0.0:1.0:0.0	.	668	Q6NUT2	D19L2_HUMAN	G	668;115	ENSP00000315988:A668G;ENSP00000439794:A115G	.	A	-	2	0	DPY19L2	62249394	1.000000	0.71417	0.994000	0.49952	0.285000	0.27093	5.070000	0.64376	1.775000	0.52247	0.195000	0.17529	GCT	DPY19L2	-	pfam_Dpy-19	ENSG00000177990		0.249	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	101	0.00	0	G	NM_173812		63963127	63963127	-1	no_errors	ENST00000324472	ensembl	human	known	69_37n	missense	84	32.26	40	SNP	1.000	C
DQX1	165545	genome.wustl.edu	37	2	74752197	74752197	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:74752197C>A	ENST00000404568.3	-	3	589	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	DQX1_ENST00000393951.2_Missense_Mutation_p.G124C|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	124	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACCTCATGACCCAGGGTCAGG	0.602																																						dbGAP											0													75.0	77.0	76.0					2																	74752197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.370G>T	2.37:g.74752197C>A	ENSP00000384621:p.Gly124Cys		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.G124C	ENST00000404568.3	37	c.370	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012842	0.93346	.	.	ENSG00000144045	ENST00000393951;ENST00000404568;ENST00000451518	T;T;T	0.35605	1.3;1.3;1.3	5.21	5.21	0.72293	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82564	-0.0394	10	0.87932	D	0	-7.3371	16.2783	0.82656	0.0:1.0:0.0:0.0	.	124	Q8TE96	DQX1_HUMAN	C	124;124;6	ENSP00000377523:G124C;ENSP00000384621:G124C;ENSP00000392969:G6C	ENSP00000377523:G124C	G	-	1	0	DQX1	74605705	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.243000	0.78219	2.694000	0.91930	0.655000	0.94253	GGT	DQX1	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144045		0.602	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	52	0.00	0	C	NM_133637		74752197	74752197	-1	no_errors	ENST00000393951	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	1.000	A
DTX4	23220	genome.wustl.edu	37	11	58972164	58972164	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:58972164C>T	ENST00000227451.3	+	9	1746	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F	DTX4_ENST00000532982.1_Missense_Mutation_p.L442F	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	548					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GAAGCTGCTGCTCGTGGCCTG	0.527																																						dbGAP											0													62.0	59.0	60.0					11																	58972164		2080	4221	6301	-	-	-	SO:0001583	missense	0			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1642C>T	11.37:g.58972164C>T	ENSP00000227451:p.Leu548Phe		Q0VF38	Missense_Mutation	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L548F	ENST00000227451.3	37	c.1642	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284447	0.59867	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.23348	1.91;1.91	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.36082	0.0954	L	0.44542	1.39	0.53005	D	0.999969	D	0.65815	0.995	P	0.57425	0.82	T	0.01679	-1.1297	10	0.40728	T	0.16	.	12.6435	0.56721	0.0:0.9206:0.0:0.0794	.	548	Q9Y2E6	DTX4_HUMAN	F	442;548	ENSP00000434055:L442F;ENSP00000227451:L548F	ENSP00000227451:L548F	L	+	1	0	DTX4	58728740	1.000000	0.71417	0.934000	0.37439	0.993000	0.82548	1.176000	0.31957	2.693000	0.91896	0.655000	0.94253	CTC	DTX4	-	NULL	ENSG00000110042		0.527	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1	122	0.00	0	C	XM_166213		58972164	58972164	+1	no_errors	ENST00000227451	ensembl	human	known	69_37n	missense	47	51.04	49	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102500780	102500780	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:102500780G>A	ENST00000360184.4	+	56	10909	c.10745G>A	c.(10744-10746)cGa>cAa	p.R3582Q	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3582	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R3582Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCTGAAACGATTCAATAGG	0.483																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											98.0	87.0	91.0					14																	102500780		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10745G>A	14.37:g.102500780G>A	ENSP00000348965:p.Arg3582Gln		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R3582Q	ENST00000360184.4	37	c.10745	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265351	0.80358	.	.	ENSG00000197102	ENST00000360184	T	0.68025	-0.3	5.17	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80122	-0.1514	10	0.54805	T	0.06	.	14.1808	0.65574	0.0729:0.0:0.9271:0.0	.	3582	Q14204	DYHC1_HUMAN	Q	3582	ENSP00000348965:R3582Q	ENSP00000348965:R3582Q	R	+	2	0	DYNC1H1	101570533	1.000000	0.71417	0.040000	0.18447	0.611000	0.37282	7.909000	0.87444	1.322000	0.45245	0.591000	0.81541	CGA	DYNC1H1	-	NULL	ENSG00000197102		0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	74	0.00	0	G	NM_001376		102500780	102500780	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	0.927	A
DYNC2H1	79659	genome.wustl.edu	37	11	103004288	103004288	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:103004288C>G	ENST00000375735.2	+	14	2102	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.S653*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.S653*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	653	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATAGAATTCAAAAGCAGGA	0.338																																						dbGAP											0													61.0	58.0	59.0					11																	103004288		1799	4065	5864	-	-	-	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1958C>G	11.37:g.103004288C>G	ENSP00000364887:p.Ser653*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S653*	ENST00000375735.2	37	c.1958	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.937954	0.97948	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	.	.	.	5.68	5.68	0.88126	.	0.736452	0.11462	U	0.561648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.7758	0.96391	0.0:1.0:0.0:0.0	.	.	.	.	X	653	.	ENSP00000334021:S653X	S	+	2	0	DYNC2H1	102509498	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.914000	0.63348	2.681000	0.91329	0.585000	0.79938	TCA	DYNC2H1	-	NULL	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	53	0.00	0	C	XM_370652		103004288	103004288	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	nonsense	19	58.70	27	SNP	1.000	G
EFHC1	114327	genome.wustl.edu	37	6	52317651	52317651	+	Intron	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:52317651A>G	ENST00000371068.5	+	4	826				EFHC1_ENST00000538167.1_Intron|EFHC1_ENST00000433625.2_Intron	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1							axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGACATAGGAACCACAATAGG	0.373																																						dbGAP											0													116.0	111.0	113.0					6																	52317651		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.723+16A>G	6.37:g.52317651A>G			B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10	p.T247A	ENST00000371068.5	37	c.739	CCDS4942.1	6																																																																																			EFHC1	-	NULL	ENSG00000096093		0.373	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	HGNC	protein_coding	OTTHUMT00000040905.2	106	0.00	0	A	NM_018100		52317651	52317651	+1	no_errors	ENST00000480623	ensembl	human	known	69_37n	missense	87	24.35	28	SNP	0.001	G
EHD4	30844	genome.wustl.edu	37	15	42192996	42192996	+	Silent	SNP	G	G	A	rs138964472	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:42192996G>A	ENST00000220325.4	-	6	1556	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	491	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.A491A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGCAGTCGGCCAGCTTCC	0.592													G|||	7	0.00139776	0.0	0.0	5008	,	,		18808	0.0069		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											80.0	68.0	72.0					15																	42192996		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1473C>T	15.37:g.42192996G>A			Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.A491	ENST00000220325.4	37	c.1473	CCDS10081.1	15																																																																																			EHD4	-	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	ENSG00000103966		0.592	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	44	0.00	0	G	NM_139265		42192996	42192996	-1	no_errors	ENST00000220325	ensembl	human	known	69_37n	silent	17	48.57	17	SNP	0.387	A
EIF5B	9669	genome.wustl.edu	37	2	100013281	100013281	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:100013281C>G	ENST00000289371.6	+	22	3515	c.3313C>G	c.(3313-3315)Cga>Gga	p.R1105G		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTTAATTCTCGAGATCCGAT	0.413																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													108.0	107.0	107.0					2																	100013281		1848	4097	5945	-	-	-	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3313C>G	2.37:g.100013281C>G	ENSP00000289371:p.Arg1105Gly		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.R1105G	ENST00000289371.6	37	c.3313	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936536	0.73442	.	.	ENSG00000158417	ENST00000289371	T	0.52754	0.65	5.76	5.76	0.90799	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.	.	.	.	T	0.76371	0.3978	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79701	-0.1693	8	.	.	.	-9.6717	19.9738	0.97296	0.0:1.0:0.0:0.0	.	1105	O60841	IF2P_HUMAN	G	1105	ENSP00000289371:R1105G	.	R	+	1	2	EIF5B	99379713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.828000	0.48120	2.732000	0.93576	0.655000	0.94253	CGA	EIF5B	-	superfamily_Transl_elong_init/rib_B-barrel	ENSG00000158417		0.413	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	83	0.00	0	C	NM_015904		100013281	100013281	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	missense	70	30.69	31	SNP	1.000	G
ELTD1	64123	genome.wustl.edu	37	1	79403912	79403912	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:79403912G>A	ENST00000370742.3	-	5	512	c.449C>T	c.(448-450)tCt>tTt	p.S150F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	150					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATCTGTCACAGAATTTCTATA	0.333																																						dbGAP											0													61.0	57.0	58.0					1																	79403912		1801	4060	5861	-	-	-	SO:0001583	missense	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.449C>T	1.37:g.79403912G>A	ENSP00000359778:p.Ser150Phe		B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S150F	ENST00000370742.3	37	c.449	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151906	0.78001	.	.	ENSG00000162618	ENST00000370742	T	0.10573	2.86	5.86	5.86	0.93980	Domain of unknown function DUF3497 (1);	0.045168	0.85682	D	0.000000	T	0.07638	0.0192	L	0.50333	1.59	0.41093	D	0.985612	B	0.32283	0.362	B	0.32980	0.156	T	0.20009	-1.0288	9	.	.	.	.	19.7774	0.96400	0.0:0.0:1.0:0.0	.	150	Q9HBW9	ELTD1_HUMAN	F	150	ENSP00000359778:S150F	.	S	-	2	0	ELTD1	79176500	0.779000	0.28652	0.931000	0.37212	0.967000	0.64934	3.279000	0.51670	2.771000	0.95319	0.650000	0.86243	TCT	ELTD1	-	pfam_DUF3497	ENSG00000162618		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	73	0.00	0	G	NM_022159		79403912	79403912	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	missense	33	57.14	44	SNP	0.741	A
EML4	27436	genome.wustl.edu	37	2	42530295	42530295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:42530295C>T	ENST00000318522.5	+	15	1955	c.1693C>T	c.(1693-1695)Caa>Taa	p.Q565*	EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Nonsense_Mutation_p.Q507*|EML4_ENST00000401738.3_Nonsense_Mutation_p.Q576*	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	565					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAAGGCAGATCAATTTTTAGT	0.348			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													159.0	160.0	160.0					2																	42530295		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1693C>T	2.37:g.42530295C>T	ENSP00000320663:p.Gln565*		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q565*	ENST00000318522.5	37	c.1693	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.536567	0.98854	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.75	5.75	0.90469	.	0.048826	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-13.3586	18.9257	0.92544	0.0:1.0:0.0:0.0	.	.	.	.	X	565;507;576	.	ENSP00000320663:Q565X	Q	+	1	0	EML4	42383799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.844000	0.55873	2.717000	0.92951	0.650000	0.86243	CAA	EML4	-	superfamily_Quinonprotein_ADH-like	ENSG00000143924		0.348	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	130	0.00	0	C	NM_019063		42530295	42530295	+1	no_errors	ENST00000318522	ensembl	human	known	69_37n	nonsense	130	34.34	68	SNP	1.000	T
EML6	400954	genome.wustl.edu	37	2	55197473	55197473	+	3'UTR	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:55197473G>C	ENST00000356458.6	+	0	6639				RTN4_ENST00000486085.1_5'Flank|EML6_ENST00000490828.1_3'UTR	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CTCTGTTCCTGAGACTAAACA	0.403																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.*242G>C	2.37:g.55197473G>C			A8MUB5|B6ZDG7	RNA	SNP	-	NULL	ENST00000356458.6	37	NULL	CCDS46286.1	2																																																																																			EML6	-	-	ENSG00000214595		0.403	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	12	0.00	0	G	XM_001725002		55197473	55197473	+1	no_errors	ENST00000481376	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.827	C
ENAH	55740	genome.wustl.edu	37	1	225707007	225707007	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:225707007C>T	ENST00000366844.3	-	5	1146	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.R251Q|ENAH_ENST00000366843.2_Missense_Mutation_p.R232Q	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	232					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CAGCCTCTCTCGTTCTTGTCT	0.592																																						dbGAP											0													182.0	176.0	178.0					1																	225707007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.695G>A	1.37:g.225707007C>T	ENSP00000355809:p.Arg232Gln		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.R232Q	ENST00000366844.3	37	c.695	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083392	0.36758	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.47177	0.85;0.85;0.85	4.84	3.92	0.45320	.	0.172289	0.40144	N	0.001167	T	0.30978	0.0782	N	0.20685	0.6	0.29563	N	0.850463	B;B	0.18461	0.028;0.016	B;B	0.12837	0.008;0.003	T	0.14980	-1.0453	10	0.18710	T	0.47	-1.5831	12.885	0.58038	0.0:0.9203:0.0:0.0797	.	232;232	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	Q	232;232;251;231	ENSP00000355809:R232Q;ENSP00000355808:R232Q;ENSP00000284563:R251Q	ENSP00000284563:R251Q	R	-	2	0	ENAH	223773630	0.493000	0.26035	0.380000	0.26093	0.677000	0.39632	-0.480000	0.06559	1.013000	0.39391	0.650000	0.86243	CGA	ENAH	-	NULL	ENSG00000154380		0.592	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	290	0.00	0	C	NM_018212		225707007	225707007	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	missense	356	23.93	112	SNP	0.988	T
ENAH	55740	genome.wustl.edu	37	1	225707048	225707048	+	Silent	SNP	C	C	T	rs566336314|rs71170086		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:225707048C>T	ENST00000366844.3	-	5	1105	c.654G>A	c.(652-654)cgG>cgA	p.R218R	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Silent_p.R237R|ENAH_ENST00000366843.2_Silent_p.R218R	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	218					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GGcgttcctgccgctccaggc	0.597																																						dbGAP											0													82.0	76.0	78.0					1																	225707048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.654G>A	1.37:g.225707048C>T			D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Silent	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.R218	ENST00000366844.3	37	c.654	CCDS31041.1	1																																																																																			ENAH	-	NULL	ENSG00000154380		0.597	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	199	0.00	0	C	NM_018212		225707048	225707048	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	silent	286	25.52	98	SNP	0.909	T
ENAH	55740	genome.wustl.edu	37	1	225707117	225707118	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:225707117_225707118delTC	ENST00000366844.3	-	5	1035_1036	c.584_585delGA	c.(583-585)agafs	p.R195fs	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Frame_Shift_Del_p.R214fs|ENAH_ENST00000366843.2_Frame_Shift_Del_p.R195fs	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	195	9 X 5 AA tandem repeats of [LMQ]-E-[QR]- E-[QR].				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ccCGTTCTTGTctctctctctc	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.584_585delGA	1.37:g.225707127_225707128delTC	ENSP00000355809:p.Arg195fs		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Frame_Shift_Del	DEL	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.R195fs	ENST00000366844.3	37	c.585_584	CCDS31041.1	1																																																																																			ENAH	-	NULL	ENSG00000154380		0.579	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	269	0.37	1	TC	NM_018212		225707117	225707118	-1	no_errors	ENST00000366844	ensembl	human	known	69_37n	frame_shift_del	365	19.74	90	DEL	0.964:0.991	-
ZCWPW1	55063	genome.wustl.edu	37	7	99999515	99999515	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:99999515G>A	ENST00000398027.2	-	17	1868	c.1621C>T	c.(1621-1623)Cca>Tca	p.P541S	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	541							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTTACCTGGCTGGTCAGAA	0.478																																						dbGAP											0													101.0	100.0	100.0					7																	99999515		1907	4134	6041	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1621C>T	7.37:g.99999515G>A	ENSP00000381109:p.Pro541Ser		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Splice_Site	SNP	-	e2-1	ENST00000398027.2	37	c.234-1	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	15.03|15.03	2.712088|2.712088	0.48517|0.48517	.|.	.|.	ENSG00000233389|ENSG00000078487	ENST00000449355|ENST00000398027	.|T	.|0.44083	.|0.93	5.0|5.0	3.2|3.2	0.36748|0.36748	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28234	.|0.0697	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23058	.|0.079;0.079	.|B;B	.|0.21917	.|0.037;0.021	.|T	.|0.04885	.|-1.0920	.|8	.|.	.|.	.|.	.|.	7.4864|7.4864	0.27437|0.27437	0.192:0.0:0.808:0.0|0.192:0.0:0.808:0.0	.|.	.|502;541	.|B4DXS7;Q9H0M4	.|.;ZCPW1_HUMAN	.|S	-1|541	.|ENSP00000381109:P541S	.|.	.|P	+|-	.|1	.|0	AC005071.3|ZCWPW1	99837451|99837451	0.988000|0.988000	0.35896|0.35896	0.873000|0.873000	0.34254|0.34254	0.555000|0.555000	0.35460|0.35460	1.100000|1.100000	0.31025|0.31025	0.819000|0.819000	0.34492|0.34492	0.655000|0.655000	0.94253|0.94253	.|CCA	AC005071.2	-	-	ENSG00000233389		0.478	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000233389	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000356083.1	96	0.00	0	G	NM_017984		99999515	99999515	+1	no_errors	ENST00000449355	ensembl	human	known	69_37n	splice_site	67	33.00	33	SNP	0.969	A
GNB3	2784	genome.wustl.edu	37	12	6955960	6955960	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:6955960C>T	ENST00000229264.3	+	11	1326	c.921C>T	c.(919-921)atC>atT	p.I307I	CDCA3_ENST00000422785.3_Missense_Mutation_p.D218N|CDCA3_ENST00000604599.1_5'UTR|GNB3_ENST00000435982.2_Silent_p.I306I	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	307					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCTCAGGCATCCTCTCTGGCC	0.552																																						dbGAP											0													55.0	44.0	48.0					12																	6955960		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.921C>T	12.37:g.6955960C>T			Q96B71|Q9BQC0	Missense_Mutation	SNP	NULL	p.D218N	ENST00000229264.3	37	c.652	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	C	9.281	1.048048	0.19827	.	.	ENSG00000237240	ENST00000422785	.	.	.	5.14	2.27	0.28462	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.80722	D	1	B	0.15930	0.015	B	0.18561	0.022	T	0.38993	-0.9635	7	0.66056	D	0.02	-8.6416	7.0135	0.24875	0.1317:0.673:0.1266:0.0687	.	218	F8WDL1	.	N	218	.	ENSP00000415142:D218N	D	-	1	0	U47924.25	6826221	1.000000	0.71417	0.853000	0.33588	0.114000	0.19823	1.688000	0.37690	0.401000	0.25424	-0.182000	0.12963	GAT	U47924.25	-	NULL	ENSG00000237240		0.552	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237240	Clone_based_vega_gene	protein_coding	OTTHUMT00000400006.1	59	0.00	0	C	NM_002075		6955960	6955960	-1	no_errors	ENST00000422785	ensembl	human	novel	69_37n	missense	30	25.00	10	SNP	0.999	T
EP400	57634	genome.wustl.edu	37	12	132490757	132490757	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:132490757T>A	ENST00000333577.4	+	15	3253	c.3144T>A	c.(3142-3144)aaT>aaA	p.N1048K	EP400_ENST00000389562.2_Missense_Mutation_p.N1011K|EP400_ENST00000389561.2_Missense_Mutation_p.N1012K|EP400_ENST00000332482.4_Missense_Mutation_p.N975K|EP400_ENST00000330386.6_Missense_Mutation_p.N1012K			Q96L91	EP400_HUMAN	E1A binding protein p400	1048	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGGATGAATATCGGGAAGC	0.567																																						dbGAP											0													101.0	93.0	96.0					12																	132490757		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3144T>A	12.37:g.132490757T>A	ENSP00000333602:p.Asn1048Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1048K	ENST00000333577.4	37	c.3144		12	.	.	.	.	.	.	.	.	.	.	T	6.021	0.372271	0.11409	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.47;-2.48	5.53	-4.89	0.03103	.	0.820302	0.11865	N	0.521957	T	0.77631	0.4159	L	0.34521	1.04	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.08055	0.003;0.003;0.003	T	0.60732	-0.7205	10	0.15499	T	0.54	.	8.6367	0.33953	0.1085:0.4865:0.0:0.4051	.	1012;1012;1011	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	1048;1012;1011;975;1012;1012;1012	ENSP00000333602:N1048K;ENSP00000374212:N1012K;ENSP00000374213:N1011K;ENSP00000331737:N975K;ENSP00000330620:N1012K	ENSP00000330620:N1012K	N	+	3	2	EP400	131056710	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.394000	0.07296	-1.184000	0.02720	-0.290000	0.09829	AAT	EP400	-	NULL	ENSG00000183495		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		85	0.00	0	T	NM_015409		132490757	132490757	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	51	32.00	24	SNP	0.000	A
EPB41L2	2037	genome.wustl.edu	37	6	131222189	131222189	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:131222189C>T	ENST00000337057.3	-	7	1242	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	EPB41L2_ENST00000529208.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G354D|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G354D|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G354D|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G354D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	354	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTCGATGCTGCCATGTTCTTC	0.542																																						dbGAP											0													197.0	174.0	182.0					6																	131222189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1061G>A	6.37:g.131222189C>T	ENSP00000338481:p.Gly354Asp		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.G354D	ENST00000337057.3	37	c.1061	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940589	0.34283	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.48	1.53	0.23141	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.519362	0.23893	N	0.043540	T	0.51109	0.1655	L	0.58510	1.815	0.29214	N	0.874384	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.001;0.002	T	0.41822	-0.9487	10	0.31617	T	0.26	.	7.283	0.26322	0.0:0.5491:0.2526:0.1984	.	354;354;354;354;354	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	D	354	ENSP00000434308:G354D;ENSP00000434576:G354D;ENSP00000402041:G354D;ENSP00000338481:G354D;ENSP00000376222:G354D;ENSP00000357110:G354D;ENSP00000436348:G354D;ENSP00000432803:G354D;ENSP00000431988:G354D;ENSP00000431647:G354D;ENSP00000436641:G354D	ENSP00000338481:G354D	G	-	2	0	EPB41L2	131263882	0.000000	0.05858	0.780000	0.31762	0.968000	0.65278	0.185000	0.16958	0.329000	0.23460	0.655000	0.94253	GGC	EPB41L2	-	pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000079819		0.542	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	121	0.00	0	C			131222189	131222189	-1	no_errors	ENST00000337057	ensembl	human	known	69_37n	missense	38	69.35	86	SNP	0.971	T
EPHA8	2046	genome.wustl.edu	37	1	22924193	22924193	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:22924193G>A	ENST00000166244.3	+	11	2027	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	652	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTCTGCTACGGGAGGCTGCGG	0.697																																						dbGAP											0													34.0	40.0	38.0					1																	22924193		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1955G>A	1.37:g.22924193G>A	ENSP00000166244:p.Gly652Glu		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.G652E	ENST00000166244.3	37	c.1955	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576623	0.86645	.	.	ENSG00000070886	ENST00000166244	D	0.86865	-2.18	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97845	1.0271	10	0.87932	D	0	.	15.6402	0.76993	0.0:0.0:1.0:0.0	.	652	P29322	EPHA8_HUMAN	E	652	ENSP00000166244:G652E	ENSP00000166244:G652E	G	+	2	0	EPHA8	22796780	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	9.657000	0.98554	2.264000	0.75181	0.313000	0.20887	GGG	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070886		0.697	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	24	0.00	0	G	NM_020526		22924193	22924193	+1	no_errors	ENST00000166244	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	1.000	A
ERBB2IP	55914	genome.wustl.edu	37	5	65321315	65321315	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:65321315G>A	ENST00000284037.5	+	11	1214	c.825G>A	c.(823-825)ttG>ttA	p.L275L	ERBB2IP_ENST00000508515.1_Silent_p.L275L|ERBB2IP_ENST00000380938.2_Silent_p.L275L|ERBB2IP_ENST00000380935.1_Silent_p.L275L|ERBB2IP_ENST00000380936.1_Silent_p.L275L|ERBB2IP_ENST00000380939.2_Silent_p.L275L|ERBB2IP_ENST00000511297.1_Silent_p.L275L|ERBB2IP_ENST00000380943.2_Silent_p.L275L|ERBB2IP_ENST00000506030.1_Silent_p.L275L|ERBB2IP_ENST00000416865.2_Silent_p.L275L	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	275					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAGGTTCGTTGAAGAATATAA	0.358																																						dbGAP											0													168.0	161.0	164.0					5																	65321315		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.825G>A	5.37:g.65321315G>A			A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L275	ENST00000284037.5	37	c.825	CCDS58953.1	5																																																																																			ERBB2IP	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000112851		0.358	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	179	0.00	0	G	NM_018695		65321315	65321315	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	silent	153	31.39	70	SNP	1.000	A
ERBB2IP	55914	genome.wustl.edu	37	5	65321692	65321692	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:65321692G>C	ENST00000284037.5	+	12	1296	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E303Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E303Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	303					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATCAGTAGAAGAACTGGATTG	0.269																																						dbGAP											0													46.0	44.0	45.0					5																	65321692		2200	4293	6493	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.907G>C	5.37:g.65321692G>C	ENSP00000284037:p.Glu303Gln		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E303Q	ENST00000284037.5	37	c.907	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.059146	0.93846	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.66	5.66	0.87406	.	0.135805	0.64402	D	0.000003	T	0.45875	0.1364	L	0.39245	1.2	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.987;0.963;0.995;0.996;0.993;0.998;0.998	D;D;P;P;P;P;D;D	0.77557	0.99;0.917;0.744;0.886;0.882;0.782;0.976;0.958	T	0.32877	-0.9890	10	0.87932	D	0	.	20.1115	0.97913	0.0:0.0:1.0:0.0	.	303;303;303;303;303;303;303;303	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	Q	303	ENSP00000284037:E303Q;ENSP00000370330:E303Q;ENSP00000397833:E303Q;ENSP00000370326:E303Q;ENSP00000370323:E303Q;ENSP00000370322:E303Q;ENSP00000370325:E303Q;ENSP00000422766:E303Q;ENSP00000426632:E303Q;ENSP00000422015:E303Q	ENSP00000284037:E303Q	E	+	1	0	ERBB2IP	65357448	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.974000	0.93433	2.814000	0.96858	0.655000	0.94253	GAA	ERBB2IP	-	NULL	ENSG00000112851		0.269	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	77	0.00	0	G	NM_018695		65321692	65321692	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	60	40.00	40	SNP	1.000	C
ERBB2IP	55914	genome.wustl.edu	37	5	65349777	65349777	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:65349777G>C	ENST00000284037.5	+	21	3020	c.2631G>C	c.(2629-2631)gaG>gaC	p.E877D	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E877D|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E877D|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E877D|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E877D|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E877D|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E873D|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E877D|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E877D|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	877					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTAATATGGAGATTGGAGGGC	0.383																																						dbGAP											0													367.0	365.0	366.0					5																	65349777		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2631G>C	5.37:g.65349777G>C	ENSP00000284037:p.Glu877Asp		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E877D	ENST00000284037.5	37	c.2631	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	0.143	-1.100262	0.01843	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.26660	1.93;1.91;1.91;2.08;1.72;1.91;1.89;1.94;1.72	5.69	0.69	0.18039	.	0.147987	0.64402	N	0.000011	T	0.10852	0.0265	N	0.19112	0.55	0.40418	D	0.979819	B;B;B;B;B;B;B	0.21606	0.025;0.014;0.014;0.058;0.009;0.025;0.047	B;B;B;B;B;B;B	0.21360	0.034;0.022;0.022;0.015;0.011;0.023;0.025	T	0.23797	-1.0178	10	0.09590	T	0.72	.	3.4228	0.07400	0.1886:0.2212:0.4863:0.1039	.	877;877;877;873;877;877;877	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	D	877;877;877;877;877;877;873;877;877	ENSP00000284037:E877D;ENSP00000370330:E877D;ENSP00000370326:E877D;ENSP00000370323:E877D;ENSP00000370322:E877D;ENSP00000370325:E877D;ENSP00000422766:E873D;ENSP00000426632:E877D;ENSP00000422015:E877D	ENSP00000284037:E877D	E	+	3	2	ERBB2IP	65385533	1.000000	0.71417	0.963000	0.40424	0.960000	0.62799	0.797000	0.26999	-0.172000	0.10779	-0.244000	0.11960	GAG	ERBB2IP	-	NULL	ENSG00000112851		0.383	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	30	0.00	0	G	NM_018695		65349777	65349777	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	34	43.33	26	SNP	0.700	C
ERBB2IP	55914	genome.wustl.edu	37	5	65350195	65350195	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:65350195G>A	ENST00000284037.5	+	21	3438	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E1013K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E1017K|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1017					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGAGAGCACAGAAAATCAAAG	0.413																																						dbGAP											0													81.0	80.0	80.0					5																	65350195		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3049G>A	5.37:g.65350195G>A	ENSP00000284037:p.Glu1017Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E1017K	ENST00000284037.5	37	c.3049	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453029	0.63290	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.37915	1.37;1.36;1.36;1.56;1.17;1.43;1.36;1.4;1.17	5.76	5.76	0.90799	.	0.079395	0.53938	D	0.000051	T	0.47544	0.1451	L	0.47190	1.495	0.58432	D	0.999996	P;P;P;P;P;P;P	0.52061	0.95;0.917;0.917;0.917;0.877;0.804;0.95	P;B;P;P;B;B;P	0.53035	0.716;0.278;0.524;0.524;0.339;0.229;0.716	T	0.12863	-1.0531	10	0.30854	T	0.27	.	19.9625	0.97256	0.0:0.0:1.0:0.0	.	1017;1017;1017;1013;1017;1017;1017	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	1017;1017;1017;1017;1017;1017;1013;1017;1017	ENSP00000284037:E1017K;ENSP00000370330:E1017K;ENSP00000370326:E1017K;ENSP00000370323:E1017K;ENSP00000370322:E1017K;ENSP00000370325:E1017K;ENSP00000422766:E1013K;ENSP00000426632:E1017K;ENSP00000422015:E1017K	ENSP00000284037:E1017K	E	+	1	0	ERBB2IP	65385951	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.122000	0.77169	2.726000	0.93360	0.655000	0.94253	GAA	ERBB2IP	-	NULL	ENSG00000112851		0.413	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	51	0.00	0	G	NM_018695		65350195	65350195	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	27	49.06	26	SNP	1.000	A
ERBB2IP	55914	genome.wustl.edu	37	5	65350414	65350414	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:65350414G>T	ENST00000284037.5	+	21	3657	c.3268G>T	c.(3268-3270)Gat>Tat	p.D1090Y	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D1086Y|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D1090Y|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1090					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAATCTTGGTGATCCAGGCTC	0.493																																						dbGAP											0													103.0	102.0	102.0					5																	65350414		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3268G>T	5.37:g.65350414G>T	ENSP00000284037:p.Asp1090Tyr		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D1090Y	ENST00000284037.5	37	c.3268	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020438	0.54576	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.38722	1.26;1.26;1.26;1.46;1.12;1.32;1.25;1.3;1.12	5.43	5.43	0.79202	.	0.179987	0.46442	D	0.000293	T	0.45337	0.1337	N	0.19112	0.55	0.80722	D	1	P;P;P;P;P;P;P	0.46952	0.782;0.887;0.707;0.816;0.834;0.744;0.884	P;P;P;P;P;P;P	0.54856	0.603;0.653;0.583;0.583;0.621;0.621;0.762	T	0.27571	-1.0070	10	0.30854	T	0.27	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	1090;1090;1090;1086;1090;1090;1090	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	Y	1090;1090;1090;1090;1090;1090;1086;1090;1090	ENSP00000284037:D1090Y;ENSP00000370330:D1090Y;ENSP00000370326:D1090Y;ENSP00000370323:D1090Y;ENSP00000370322:D1090Y;ENSP00000370325:D1090Y;ENSP00000422766:D1086Y;ENSP00000426632:D1090Y;ENSP00000422015:D1090Y	ENSP00000284037:D1090Y	D	+	1	0	ERBB2IP	65386170	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.868000	0.69605	2.549000	0.85964	0.650000	0.86243	GAT	ERBB2IP	-	NULL	ENSG00000112851		0.493	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	97	0.00	0	G	NM_018695		65350414	65350414	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	46	43.90	36	SNP	1.000	T
ERBB2IP	55914	genome.wustl.edu	37	5	65371041	65371041	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:65371041G>A	ENST00000284037.5	+	23	4335	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K	ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E1275K|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E1275K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E1264K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E1271K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E1275K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E1323K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E514K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1316					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACAAGGCCATGAACTGGCAAA	0.368																																						dbGAP											0													88.0	90.0	89.0					5																	65371041		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3946G>A	5.37:g.65371041G>A	ENSP00000284037:p.Glu1316Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E1316K	ENST00000284037.5	37	c.3946	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898640	0.91962	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.39592	1.35;1.39;1.38;1.32;1.4;1.07;1.39;1.38	5.57	5.57	0.84162	PDZ/DHR/GLGF (1);	0.054605	0.64402	D	0.000001	T	0.42223	0.1193	N	0.22421	0.69	0.80722	D	1	P;P;P;P;P;D;P	0.58268	0.608;0.51;0.685;0.826;0.631;0.982;0.747	B;B;B;B;B;P;B	0.51266	0.108;0.349;0.305;0.383;0.223;0.664;0.397	T	0.12167	-1.0558	10	0.27082	T	0.32	.	19.5572	0.95357	0.0:0.0:1.0:0.0	.	514;1275;1323;1323;1271;1316;1275	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	K	1316;1275;514;1264;1275;1275;1271;1323;153	ENSP00000284037:E1316K;ENSP00000370330:E1275K;ENSP00000397833:E514K;ENSP00000370326:E1264K;ENSP00000370323:E1275K;ENSP00000370325:E1275K;ENSP00000422766:E1271K;ENSP00000426632:E1323K	ENSP00000284037:E1316K	E	+	1	0	ERBB2IP	65406797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.678000	0.91211	2.615000	0.88500	0.650000	0.86243	GAA	ERBB2IP	-	superfamily_PDZ	ENSG00000112851		0.368	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	62	0.00	0	G	NM_018695		65371041	65371041	+1	no_errors	ENST00000284037	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	1.000	A
ERBB4	2066	genome.wustl.edu	37	2	212578306	212578306	+	Silent	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:212578306T>C	ENST00000342788.4	-	8	1261	c.951A>G	c.(949-951)gaA>gaG	p.E317E	ERBB4_ENST00000436443.1_Silent_p.E317E|ERBB4_ENST00000402597.1_Silent_p.E317E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	317	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TAATCCCATTTTCTTCTACTT	0.363										TSP Lung(8;0.080)																												dbGAP											0													129.0	125.0	126.0					2																	212578306		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.951A>G	2.37:g.212578306T>C			B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,superfamily_Kinase-like_dom,smart_Furin_repeat	p.K317R	ENST00000342788.4	37	c.950	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	T	9.097	1.003128	0.19121	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.57	4.42	0.53409	.	.	.	.	.	T	0.62563	0.2438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59547	-0.7434	4	.	.	.	.	11.2184	0.48840	0.0:0.0714:0.0:0.9286	.	.	.	.	R	317	.	.	K	-	2	0	ERBB4	212286551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.939000	0.40213	0.966000	0.38159	0.529000	0.55759	AAA	ERBB4	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000178568		0.363	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	124	0.00	0	T	NM_001042599		212578306	212578306	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000260943	ensembl	human	novel	69_37n	missense	131	23.84	41	SNP	1.000	C
ESR1	2099	genome.wustl.edu	37	6	152265369	152265369	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:152265369G>A	ENST00000206249.3	+	4	1184	c.822G>A	c.(820-822)ggG>ggA	p.G274G	ESR1_ENST00000456483.2_Intron|ESR1_ENST00000443427.1_Silent_p.G274G|ESR1_ENST00000338799.5_Silent_p.G274G|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000427531.2_Silent_p.G101G|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000440973.1_Silent_p.G274G	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	274	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.|Self-association.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GAGATGATGGGGAGGGCAGGG	0.488																																						dbGAP											0													94.0	98.0	97.0					6																	152265369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.822G>A	6.37:g.152265369G>A			Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Oestr_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.G179E	ENST00000206249.3	37	c.536	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144481	0.21288	.	.	ENSG00000091831	ENST00000427531	D	0.92545	-3.06	5.66	2.93	0.34026	.	0.713198	0.14106	N	0.341072	T	0.63058	0.2479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59440	-0.7454	7	0.02654	T	1	.	4.9352	0.13937	0.2847:0.0:0.5791:0.1362	.	.	.	.	E	179	ENSP00000394721:G179E	ENSP00000394721:G179E	G	+	2	0	ESR1	152307062	0.985000	0.35326	0.970000	0.41538	0.920000	0.55202	0.401000	0.20948	0.342000	0.23796	-0.150000	0.13652	GGG	ESR1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000091831		0.488	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	76	0.00	0	G			152265369	152265369	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427531	ensembl	human	putative	69_37n	missense	13	73.47	36	SNP	0.998	A
ESR2	2100	genome.wustl.edu	37	14	64746795	64746795	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:64746795G>A	ENST00000341099.4	-	3	856	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	ESR2_ENST00000542956.1_Missense_Mutation_p.H147Y|ESR2_ENST00000554572.1_Missense_Mutation_p.H147Y|ESR2_ENST00000555278.1_Missense_Mutation_p.H147Y|ESR2_ENST00000557772.1_Missense_Mutation_p.H147Y|ESR2_ENST00000267525.6_Missense_Mutation_p.H147Y|ESR2_ENST00000353772.3_Missense_Mutation_p.H147Y|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000358599.5_Missense_Mutation_p.H147Y|ESR2_ENST00000553796.1_Missense_Mutation_p.H147Y|ESR2_ENST00000357782.2_Missense_Mutation_p.H147Y	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	147	Modulating.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GCGCAGAAGTGAGCATCCCTC	0.478																																						dbGAP											0													244.0	221.0	229.0					14																	64746795		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.439C>T	14.37:g.64746795G>A	ENSP00000343925:p.His147Tyr		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.H147Y	ENST00000341099.4	37	c.439	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864657	0.71949	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (2);	0.049355	0.85682	D	0.000000	D	0.97259	0.9104	L	0.61036	1.89	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.987;0.971;0.991;0.997	D;D;P;D;D	0.71656	0.974;0.931;0.786;0.956;0.962	D	0.97705	1.0187	10	0.87932	D	0	.	19.5206	0.95183	0.0:0.0:1.0:0.0	.	147;147;147;147;147	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	Y	147	ENSP00000452485:H147Y;ENSP00000441792:H147Y;ENSP00000450699:H147Y;ENSP00000335551:H147Y;ENSP00000351412:H147Y;ENSP00000450488:H147Y;ENSP00000452426:H147Y;ENSP00000350427:H147Y;ENSP00000451582:H147Y;ENSP00000343925:H147Y;ENSP00000267525:H147Y	ENSP00000267525:H147Y	H	-	1	0	ESR2	63816548	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.247000	0.95444	2.623000	0.88846	0.557000	0.71058	CAC	ESR2	-	smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000140009		0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	56	0.00	0	G			64746795	64746795	-1	no_errors	ENST00000341099	ensembl	human	known	69_37n	missense	67	34.95	36	SNP	1.000	A
F2RL2	2151	genome.wustl.edu	37	5	75913971	75913971	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:75913971G>C	ENST00000296641.4	-	2	764	c.561C>G	c.(559-561)atC>atG	p.I187M	F2RL2_ENST00000504899.1_Missense_Mutation_p.I165M|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	187					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GGTTGATGCTGATGCAGGCAA	0.552																																						dbGAP											0													93.0	77.0	82.0					5																	75913971		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.561C>G	5.37:g.75913971G>C	ENSP00000296641:p.Ile187Met		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Prot_act_rcpt_3,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.I187M	ENST00000296641.4	37	c.561	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612231	0.28712	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.79940	-1.32;-1.32	4.99	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.174519	0.49305	N	0.000155	T	0.72145	0.3424	L	0.45698	1.435	0.33377	D	0.574401	P	0.41710	0.76	B	0.41440	0.357	T	0.73760	-0.3881	10	0.39692	T	0.17	-12.7875	5.9234	0.19094	0.1885:0.1974:0.6141:0.0	.	187	O00254	PAR3_HUMAN	M	187;165	ENSP00000296641:I187M;ENSP00000426703:I165M	ENSP00000296641:I187M	I	-	3	3	F2RL2	75949727	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	2.520000	0.45554	0.471000	0.27319	0.563000	0.77884	ATC	F2RL2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164220		0.552	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	HGNC	protein_coding	OTTHUMT00000219958.3	32	0.00	0	G			75913971	75913971	-1	no_errors	ENST00000296641	ensembl	human	known	69_37n	missense	25	50.00	25	SNP	1.000	C
FAM111A	63901	genome.wustl.edu	37	11	58919838	58919838	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:58919838T>C	ENST00000528737.1	+	5	3515	c.697T>C	c.(697-699)Tcc>Ccc	p.S233P	FAM111A_ENST00000361723.3_Missense_Mutation_p.S233P|FAM111A_ENST00000533703.1_Missense_Mutation_p.S233P|FAM111A_ENST00000531147.1_Missense_Mutation_p.S233P|FAM111A_ENST00000420244.1_Missense_Mutation_p.S233P			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	233					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGATTTCTTTCCTTTCTGGA	0.408																																						dbGAP											0													120.0	120.0	120.0					11																	58919838		2201	4295	6496	-	-	-	SO:0001583	missense	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.697T>C	11.37:g.58919838T>C	ENSP00000434435:p.Ser233Pro		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.S233P	ENST00000528737.1	37	c.697	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	t	7.913	0.736838	0.15574	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.8	-5.65	0.02459	.	0.791603	0.11927	N	0.516065	T	0.41328	0.1154	M	0.73962	2.25	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.37572	-0.9700	10	0.38643	T	0.18	-20.8363	9.7795	0.40640	0.0:0.4639:0.1074:0.4286	.	233	Q96PZ2	F111A_HUMAN	P	233	ENSP00000434435:S233P;ENSP00000406683:S233P;ENSP00000355264:S233P;ENSP00000433154:S233P;ENSP00000431631:S233P	ENSP00000355264:S233P	S	+	1	0	FAM111A	58676414	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.055000	0.01397	-0.970000	0.03569	-0.266000	0.10368	TCC	FAM111A	-	NULL	ENSG00000166801		0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	80	0.00	0	T	NM_022074		58919838	58919838	+1	no_errors	ENST00000361723	ensembl	human	known	69_37n	missense	36	55.00	44	SNP	0.000	C
FAM13C	220965	genome.wustl.edu	37	10	61115683	61115683	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:61115683G>A	ENST00000373868.2	-	2	170	c.83C>T	c.(82-84)tCt>tTt	p.S28F	FAM13C_ENST00000435852.2_Missense_Mutation_p.S28F|FAM13C_ENST00000422313.2_Missense_Mutation_p.S28F|FAM13C_ENST00000442566.3_Missense_Mutation_p.S28F|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.S28F|FAM13C_ENST00000419214.2_Missense_Mutation_p.S28F|FAM13C_ENST00000468840.2_5'UTR	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	28										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCATGTAGAGAGACTGGATC	0.433																																						dbGAP											0													135.0	124.0	127.0					10																	61115683		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.83C>T	10.37:g.61115683G>A	ENSP00000362975:p.Ser28Phe		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.S28F	ENST00000373868.2	37	c.83	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219215	0.79464	.	.	ENSG00000148541	ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.46	5.46	0.80206	.	0.292853	0.29178	N	0.012917	T	0.72740	0.3498	M	0.62723	1.935	0.80722	D	1	D;P;P	0.53885	0.963;0.937;0.937	P;P;P	0.55508	0.777;0.679;0.679	T	0.75031	-0.3461	10	0.87932	D	0	.	16.5987	0.84803	0.0:0.0:1.0:0.0	.	28;28;28	B7Z2K3;Q8NE31-3;Q8NE31	.;.;FA13C_HUMAN	F	28	ENSP00000362975:S28F;ENSP00000395661:S28F;ENSP00000277705:S28F;ENSP00000391993:S28F;ENSP00000392302:S28F;ENSP00000400241:S28F	ENSP00000277705:S28F	S	-	2	0	FAM13C	60785689	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.713000	0.54882	2.834000	0.97654	0.655000	0.94253	TCT	FAM13C	-	NULL	ENSG00000148541		0.433	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	87	0.00	0	G			61115683	61115683	-1	no_errors	ENST00000373868	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.989	A
FAM160A1	729830	genome.wustl.edu	37	4	152498704	152498704	+	Missense_Mutation	SNP	C	C	T	rs535242527		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:152498704C>T	ENST00000505231.1	+	3	367	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	RN7SKP35_ENST00000517210.1_RNA|FAM160A1_ENST00000435205.1_Missense_Mutation_p.H70Y			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	70										endometrium(2)|kidney(1)	3						TTACGTAGAACACATGCTCTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20755	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													123.0	100.0	107.0					4																	152498704		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.208C>T	4.37:g.152498704C>T	ENSP00000421580:p.His70Tyr		Q6ZUS2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.H70Y	ENST00000505231.1	37	c.208	CCDS47146.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995344	0.74703	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.12569	2.67;2.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	L	0.55481	1.735	0.58432	D	0.99999	B	0.28998	0.23	B	0.27076	0.076	T	0.02713	-1.1120	9	.	.	.	-28.6753	20.3539	0.98825	0.0:1.0:0.0:0.0	.	70	Q05DH4	F16A1_HUMAN	Y	70	ENSP00000413196:H70Y;ENSP00000421580:H70Y	.	H	+	1	0	FAM160A1	152718154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.816000	0.96949	0.644000	0.83932	CAC	FAM160A1	-	NULL	ENSG00000164142		0.468	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	76	0.00	0	C	NM_001109977		152498704	152498704	+1	no_errors	ENST00000435205	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	1.000	T
FAM169A	26049	genome.wustl.edu	37	5	74130403	74130403	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:74130403C>G	ENST00000389156.4	-	5	428	c.338G>C	c.(337-339)aGa>aCa	p.R113T	FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Missense_Mutation_p.R113T	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	113						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CAGAACCACTCTCTCCCCAAG	0.408																																						dbGAP											0													82.0	75.0	77.0					5																	74130403		1883	4103	5986	-	-	-	SO:0001583	missense	0				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.338G>C	5.37:g.74130403C>G	ENSP00000373808:p.Arg113Thr		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	NULL	p.R113T	ENST00000389156.4	37	c.338	CCDS43330.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684832	0.88639	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000513277;ENST00000514200	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	D	0.92424	0.7595	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92375	0.5908	10	0.87932	D	0	-9.9189	20.2187	0.98312	0.0:1.0:0.0:0.0	.	113;113	D6RB01;Q9Y6X4	.;F169A_HUMAN	T	113	ENSP00000373808:R113T;ENSP00000424578:R113T;ENSP00000423631:R113T;ENSP00000423883:R113T	ENSP00000373808:R113T	R	-	2	0	FAM169A	74166159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.796000	0.75145	2.780000	0.95670	0.655000	0.94253	AGA	FAM169A	-	NULL	ENSG00000198780		0.408	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	HGNC	protein_coding	OTTHUMT00000371092.2	59	0.00	0	C			74130403	74130403	-1	no_errors	ENST00000389156	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	1.000	G
FAM177B	400823	genome.wustl.edu	37	1	222920391	222920391	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:222920391G>C	ENST00000445590.2	+	4	475	c.209G>C	c.(208-210)tGg>tCg	p.W70S	FAM177B_ENST00000360827.2_Missense_Mutation_p.W70S	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	70										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CTACGATTTTGGGCAGGACGA	0.368																																						dbGAP											0													113.0	117.0	115.0					1																	222920391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.209G>C	1.37:g.222920391G>C	ENSP00000414451:p.Trp70Ser		Q6ZUN8	Missense_Mutation	SNP	NULL	p.W70S	ENST00000445590.2	37	c.209	CCDS1535.2	1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.630061	0.46944	.	.	ENSG00000197520	ENST00000434700;ENST00000445590;ENST00000360827;ENST00000456298	T;T;T;T	0.43294	0.97;1.52;1.52;0.95	4.72	4.72	0.59763	.	0.476047	0.17930	N	0.157194	T	0.57519	0.2059	L	0.55481	1.735	0.52501	D	0.999955	D	0.71674	0.998	D	0.69479	0.964	T	0.56589	-0.7954	10	0.49607	T	0.09	-5.7452	13.1685	0.59585	0.0:0.0:1.0:0.0	.	70	A6PVY3	F177B_HUMAN	S	70	ENSP00000391615:W70S;ENSP00000414451:W70S;ENSP00000354070:W70S;ENSP00000400233:W70S	ENSP00000354070:W70S	W	+	2	0	FAM177B	220987014	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.027000	0.49697	2.163000	0.67991	0.591000	0.81541	TGG	FAM177B	-	NULL	ENSG00000197520		0.368	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM177B	HGNC	protein_coding	OTTHUMT00000092151.2	144	0.00	0	G	NM_207468		222920391	222920391	+1	no_errors	ENST00000360827	ensembl	human	known	69_37n	missense	162	28.00	63	SNP	1.000	C
FAM186A	121006	genome.wustl.edu	37	12	50748541	50748541	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:50748541C>G	ENST00000327337.5	-	4	2073	c.2074G>C	c.(2074-2076)Gac>Cac	p.D692H	FAM186A_ENST00000543111.1_Missense_Mutation_p.D692H	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	692																	GTCTTTTTGTCAAAAGCCTTT	0.353																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													57.0	44.0	47.0					12																	50748541		692	1591	2283	-	-	-	SO:0001583	missense	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.2074G>C	12.37:g.50748541C>G	ENSP00000329995:p.Asp692His			Missense_Mutation	SNP	NULL	p.D692H	ENST00000327337.5	37	c.2074	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082738	0.55861	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.31510	1.49;1.49	4.48	3.57	0.40892	.	.	.	.	.	T	0.41190	0.1148	L	0.27053	0.805	0.23602	N	0.997313	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.22765	-1.0207	9	0.87932	D	0	.	11.98	0.53115	0.0:0.8243:0.1757:0.0	.	692;692	F5GYN0;A6NE01	.;F186A_HUMAN	H	692	ENSP00000441337:D692H;ENSP00000329995:D692H	ENSP00000329995:D692H	D	-	1	0	FAM186A	49034808	0.014000	0.17966	0.018000	0.16275	0.364000	0.29643	1.336000	0.33850	1.221000	0.43506	0.655000	0.94253	GAC	FAM186A	-	NULL	ENSG00000185958		0.353	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	53	0.00	0	C	XM_001718353		50748541	50748541	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	59	37.89	36	SNP	0.011	G
FAM217B	63939	genome.wustl.edu	37	20	58519120	58519120	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:58519120C>A	ENST00000358293.3	+	5	537	c.122C>A	c.(121-123)aCc>aAc	p.T41N	FAM217B_ENST00000360816.3_Missense_Mutation_p.T41N|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	41																	ACAGCTGTCACCCAGCCTACT	0.478																																						dbGAP											0													48.0	49.0	49.0					20																	58519120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.122C>A	20.37:g.58519120C>A	ENSP00000351040:p.Thr41Asn		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.T41N	ENST00000358293.3	37	c.122	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774530	0.16051	.	.	ENSG00000196227	ENST00000358293;ENST00000360816;ENST00000421092	T;T	0.31247	1.5;1.5	5.31	3.25	0.37280	.	1.017430	0.07879	N	0.969263	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.19391	0.025	T	0.19353	-1.0308	10	0.38643	T	0.18	-1.3152	6.5136	0.22236	0.0:0.684:0.1508:0.1652	.	41	Q9NTX9	CT177_HUMAN	N	41	ENSP00000351040:T41N;ENSP00000354056:T41N	ENSP00000351040:T41N	T	+	2	0	C20orf177	57952515	0.007000	0.16637	0.021000	0.16686	0.086000	0.17979	1.694000	0.37752	1.233000	0.43693	0.655000	0.94253	ACC	FAM217B	-	NULL	ENSG00000196227		0.478	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	46	0.00	0	C	NM_022106		58519120	58519120	+1	no_errors	ENST00000358293	ensembl	human	known	69_37n	missense	25	45.65	21	SNP	0.003	A
NUTM2F	54754	genome.wustl.edu	37	9	97080989	97080989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:97080989G>A	ENST00000253262.4	-	7	2049	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Nonsense_Mutation_p.Q662*	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	677																	GATGGAGACTGAAGAGCTCCC	0.612																																						dbGAP											0													63.0	50.0	54.0					9																	97080989		1883	4094	5977	-	-	-	SO:0001587	stop_gained	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2029C>T	9.37:g.97080989G>A	ENSP00000253262:p.Gln677*		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Nonsense_Mutation	SNP	NULL	p.Q677*	ENST00000253262.4	37	c.2029	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501308	0.44455	.	.	ENSG00000130950	ENST00000253262;ENST00000341207;ENST00000375347	.	.	.	1.37	-1.39	0.08997	.	1.247800	0.05853	N	0.621480	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	3.1725	0.06558	0.0:0.2966:0.404:0.2994	.	.	.	.	X	677;662;511	.	ENSP00000253262:Q677X	Q	-	1	0	FAM22F	96120810	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.329000	0.19698	-0.348000	0.08286	0.456000	0.33151	CAG	FAM22F	-	NULL	ENSG00000130950		0.612	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	131	0.00	0	G	NM_017561		97080989	97080989	-1	no_errors	ENST00000253262	ensembl	human	known	69_37n	nonsense	80	34.96	43	SNP	0.000	A
NUTM2F	54754	genome.wustl.edu	37	9	97088185	97088185	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:97088185C>T	ENST00000253262.4	-	2	68	c.48G>A	c.(46-48)gtG>gtA	p.V16V	NUTM2F_ENST00000335456.7_Silent_p.V16V|NUTM2F_ENST00000341207.4_Silent_p.V16V	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	16																	TGCCAGGGTTCACGGTCACGC	0.627																																						dbGAP											0													17.0	19.0	18.0					9																	97088185		1928	4090	6018	-	-	-	SO:0001819	synonymous_variant	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.48G>A	9.37:g.97088185C>T			B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	NULL	p.V16	ENST00000253262.4	37	c.48	CCDS47994.1	9																																																																																			FAM22F	-	NULL	ENSG00000130950		0.627	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	62	0.00	0	C	NM_017561		97088185	97088185	-1	no_errors	ENST00000253262	ensembl	human	known	69_37n	silent	29	42.00	21	SNP	0.002	T
FAM47A	158724	genome.wustl.edu	37	X	34149897	34149897	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:34149897C>T	ENST00000346193.3	-	1	550	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	167										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCTGGGTCTCACAACAAGCC	0.557																																						dbGAP											0													67.0	65.0	66.0					X																	34149897		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.499G>A	X.37:g.34149897C>T	ENSP00000345029:p.Glu167Lys		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.E167K	ENST00000346193.3	37	c.499	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606295	0.14002	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.1	0.0862	0.14445	.	.	.	.	.	T	0.30262	0.0759	L	0.46885	1.475	0.09310	N	1	D	0.65815	0.995	D	0.70227	0.968	T	0.16217	-1.0410	9	0.30078	T	0.28	.	4.8411	0.13491	0.0:0.5158:0.4842:0.0	.	167	Q5JRC9	FA47A_HUMAN	K	167	ENSP00000345029:E167K	ENSP00000345029:E167K	E	-	1	0	FAM47A	34059818	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-0.421000	0.07053	-0.038000	0.13624	0.499000	0.49734	GAG	FAM47A	-	NULL	ENSG00000185448		0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	116	0.00	0	C	NM_203408		34149897	34149897	-1	no_errors	ENST00000346193	ensembl	human	known	69_37n	missense	36	55.56	45	SNP	0.007	T
GAREM	64762	genome.wustl.edu	37	18	29848284	29848284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:29848284delG	ENST00000269209.6	-	6	2184	c.2181delC	c.(2179-2181)cccfs	p.P727fs	GAREM_ENST00000399218.4_Frame_Shift_Del_p.P726fs			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	727					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TTGGAGCCCTGGGGGGTAAGG	0.532																																						dbGAP											0													101.0	99.0	99.0					18																	29848284		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2181delC	18.37:g.29848284delG	ENSP00000269209:p.Pro727fs		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Frame_Shift_Del	DEL	superfamily_SAM/pointed	p.R728fs	ENST00000269209.6	37	c.2181	CCDS56057.1	18																																																																																			FAM59A	-	NULL	ENSG00000141441		0.532	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	84	0.00	0	G	NM_022751		29848284	29848284	-1	no_errors	ENST00000269209	ensembl	human	known	69_37n	frame_shift_del	22	46.67	21	DEL	0.927	-
BRINP3	339479	genome.wustl.edu	37	1	190068091	190068091	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:190068091G>A	ENST00000367462.3	-	8	1589	c.1358C>T	c.(1357-1359)gCa>gTa	p.A453V	BRINP3_ENST00000534846.1_Missense_Mutation_p.A351V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	453					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTTGTCTGGTGCGCATGTCAG	0.622																																						dbGAP											0													67.0	61.0	63.0					1																	190068091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1358C>T	1.37:g.190068091G>A	ENSP00000356432:p.Ala453Val		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.A453V	ENST00000367462.3	37	c.1358	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048369	0.75846	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.44881	0.91;0.91	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.054483	0.64402	D	0.000001	T	0.43188	0.1236	M	0.62723	1.935	0.80722	D	1	B;B	0.32829	0.386;0.267	B;B	0.28139	0.086;0.039	T	0.44726	-0.9309	10	0.72032	D	0.01	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	351;453	B7Z260;Q76B58	.;FAM5C_HUMAN	V	453;351	ENSP00000356432:A453V;ENSP00000438022:A351V	ENSP00000356432:A453V	A	-	2	0	FAM5C	188334714	1.000000	0.71417	0.955000	0.39395	0.700000	0.40528	7.916000	0.87491	2.656000	0.90262	0.591000	0.81541	GCA	FAM5C	-	NULL	ENSG00000162670		0.622	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	37	0.00	0	G	NM_199051		190068091	190068091	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	A
RP11-383M4.6	0	genome.wustl.edu	37	9	84562337	84562337	+	lincRNA	SNP	G	G	C	rs201734550	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:84562337G>C	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CTGTGTCAGAGAGCATTCATG	0.488													G|||	175	0.0349441	0.0825	0.0187	5008	,	,		19498	0.0		0.0417	False		,,,				2504	0.0112					dbGAP											0													1.0	1.0	1.0					9																	84562337		377	789	1166	-	-	-			0																															9.37:g.84562337G>C				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			FAM75D3	-	-	ENSG00000186788		0.488	RP11-383M4.6-001	KNOWN	basic	lincRNA	FAM75D3	HGNC	lincRNA	OTTHUMT00000453562.1	11	0.00	0	G			84562337	84562337	+1	no_errors	ENST00000334208	ensembl	human	known	69_37n	rna	17	29.17	7	SNP	0.000	C
RP11-383M4.6	0	genome.wustl.edu	37	9	84562818	84562818	+	lincRNA	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:84562818G>C	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CCACCGCGTTGATACCTCCCA	0.418																																						dbGAP											0													146.0	108.0	120.0					9																	84562818		692	1591	2283	-	-	-			0																															9.37:g.84562818G>C				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			FAM75D3	-	-	ENSG00000186788		0.418	RP11-383M4.6-001	KNOWN	basic	lincRNA	FAM75D3	HGNC	lincRNA	OTTHUMT00000453562.1	157	0.00	0	G			84562818	84562818	+1	no_errors	ENST00000334208	ensembl	human	known	69_37n	rna	132	24.14	42	SNP	0.000	C
SPATA31D1	389763	genome.wustl.edu	37	9	84608240	84608240	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:84608240C>G	ENST00000344803.2	+	4	2902	c.2855C>G	c.(2854-2856)tCt>tGt	p.S952C		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	952					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCTTCATCTCTCAGGGAGAT	0.483																																						dbGAP											0													91.0	86.0	88.0					9																	84608240		1858	4111	5969	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2855C>G	9.37:g.84608240C>G	ENSP00000341988:p.Ser952Cys			Missense_Mutation	SNP	NULL	p.S952C	ENST00000344803.2	37	c.2855	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275562	0.40294	.	.	ENSG00000214929	ENST00000344803	T	0.13778	2.56	2.58	2.58	0.30949	.	1.744200	0.03284	N	0.186566	T	0.36441	0.0967	M	0.67397	2.05	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.10543	-1.0625	10	0.62326	D	0.03	-18.0598	8.849	0.35188	0.0:1.0:0.0:0.0	.	952	Q6ZQQ2	F75D1_HUMAN	C	952	ENSP00000341988:S952C	ENSP00000341988:S952C	S	+	2	0	FAM75D1	83798060	0.003000	0.15002	0.006000	0.13384	0.002000	0.02628	0.407000	0.21049	1.790000	0.52503	0.650000	0.86243	TCT	FAM75D1	-	NULL	ENSG00000214929		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	61	0.00	0	C	NM_001001670		84608240	84608240	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	53	31.17	24	SNP	0.006	G
SPATA31E1	286234	genome.wustl.edu	37	9	90502987	90502987	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:90502987G>A	ENST00000325643.5	+	4	3651	c.3585G>A	c.(3583-3585)caG>caA	p.Q1195Q		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1195					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGAAGAGTCAGAAGACGCTGG	0.647																																						dbGAP											0													11.0	11.0	11.0					9																	90502987		2186	4284	6470	-	-	-	SO:0001819	synonymous_variant	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3585G>A	9.37:g.90502987G>A			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.Q1195	ENST00000325643.5	37	c.3585	CCDS6676.1	9																																																																																			FAM75E1	-	NULL	ENSG00000177992		0.647	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75E1	HGNC	protein_coding	OTTHUMT00000052954.2	18	0.00	0	G	NM_178828		90502987	90502987	+1	no_errors	ENST00000325643	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.000	A
SPATA31E1	286234	genome.wustl.edu	37	9	90503538	90503538	+	Missense_Mutation	SNP	C	C	T	rs557844478		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:90503538C>T	ENST00000325643.5	+	4	4202	c.4136C>T	c.(4135-4137)cCt>cTt	p.P1379L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1379					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCTGCAGCCCTAAAGCCACC	0.607													.|||	1	0.000199681	0.0	0.0	5008	,	,		18837	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													66.0	59.0	62.0					9																	90503538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.4136C>T	9.37:g.90503538C>T	ENSP00000322640:p.Pro1379Leu		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.P1379L	ENST00000325643.5	37	c.4136	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	c	5.621	0.299357	0.10622	.	.	ENSG00000177992	ENST00000325643	T	0.03413	3.94	2.32	-2.0	0.07433	.	1.552330	0.04332	N	0.352515	T	0.03220	0.0094	N	0.22421	0.69	0.09310	N	1	B	0.29671	0.254	B	0.31337	0.128	T	0.44112	-0.9349	10	0.49607	T	0.09	.	4.5601	0.12156	0.3246:0.5246:0.1508:0.0	.	1379	Q6ZUB1	CI079_HUMAN	L	1379	ENSP00000322640:P1379L	ENSP00000322640:P1379L	P	+	2	0	C9orf79	89693358	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.440000	0.06888	-0.450000	0.07107	-0.274000	0.10170	CCT	FAM75E1	-	NULL	ENSG00000177992		0.607	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75E1	HGNC	protein_coding	OTTHUMT00000052954.2	46	0.00	0	C	NM_178828		90503538	90503538	+1	no_errors	ENST00000325643	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.000	T
FAN1	22909	genome.wustl.edu	37	15	31229382	31229382	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:31229382G>A	ENST00000362065.4	+	14	3268	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	993	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTGGCTGGCTGAACTGCAGAA	0.428								Direct reversal of damage																														dbGAP											0													100.0	101.0	100.0					15																	31229382		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2977G>A	15.37:g.31229382G>A	ENSP00000354497:p.Glu993Lys		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.E993K	ENST00000362065.4	37	c.2977	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.081220	0.94050	.	.	ENSG00000198690	ENST00000362065	D	0.85088	-1.94	5.2	5.2	0.72013	VRR-NUC (1);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	L	0.58583	1.82	0.80722	D	1	D;D	0.58620	0.961;0.983	P;D	0.63033	0.861;0.91	D	0.87747	0.2589	10	0.29301	T	0.29	-27.1825	19.1044	0.93287	0.0:0.0:1.0:0.0	.	993;993	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	K	993	ENSP00000354497:E993K	ENSP00000354497:E993K	E	+	1	0	FAN1	29016674	1.000000	0.71417	0.340000	0.25575	0.706000	0.40770	9.458000	0.97634	2.588000	0.87417	0.561000	0.74099	GAA	FAN1	-	pfam_VRR_NUC	ENSG00000198690		0.428	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	85	0.00	0	G	NM_014967		31229382	31229382	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	missense	22	65.08	41	SNP	1.000	A
FBF1	85302	genome.wustl.edu	37	17	73917561	73917561	+	Missense_Mutation	SNP	G	G	A	rs540051078		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:73917561G>A	ENST00000586717.1	-	15	1838	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	FBF1_ENST00000319129.5_Missense_Mutation_p.S521L|FBF1_ENST00000389570.4_Missense_Mutation_p.S522L			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	522					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACCAGTGGCTGAGAGGTCTCC	0.557																																						dbGAP											0													28.0	31.0	30.0					17																	73917561		1937	4134	6071	-	-	-	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1565C>T	17.37:g.73917561G>A	ENSP00000465132:p.Ser522Leu		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.S522L	ENST00000586717.1	37	c.1565		17	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573502	0.13623	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18502	2.21;2.21	5.61	1.36	0.22044	.	.	.	.	.	T	0.15305	0.0369	L	0.56769	1.78	0.09310	N	1	B;B;B	0.16802	0.019;0.006;0.01	B;B;B	0.12156	0.007;0.006;0.006	T	0.26608	-1.0098	9	0.45353	T	0.12	-1.1978	3.9637	0.09421	0.2586:0.0:0.5747:0.1667	.	536;522;521	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	L	522;522;521;535	ENSP00000374221:S522L;ENSP00000324292:S521L	ENSP00000324292:S521L	S	-	2	0	FBF1	71429156	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.397000	0.20883	0.396000	0.25283	-0.150000	0.13652	TCA	FBF1	-	NULL	ENSG00000188878		0.557	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	39	0.00	0	G	NM_001080542		73917561	73917561	-1	no_errors	ENST00000389570	ensembl	human	known	69_37n	missense	8	63.64	14	SNP	0.000	A
FBN3	84467	genome.wustl.edu	37	19	8174578	8174578	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:8174578C>T	ENST00000600128.1	-	35	4807	c.4393G>A	c.(4393-4395)Ggc>Agc	p.G1465S	FBN3_ENST00000270509.2_Missense_Mutation_p.G1465S|FBN3_ENST00000601739.1_Missense_Mutation_p.G1465S			Q75N90	FBN3_HUMAN	fibrillin 3	1465	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTAGCTGCCGGGGGTGTTA	0.607																																						dbGAP											0													105.0	105.0	105.0					19																	8174578		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4393G>A	19.37:g.8174578C>T	ENSP00000470498:p.Gly1465Ser		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G1465S	ENST00000600128.1	37	c.4393	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640673	0.67244	.	.	ENSG00000142449	ENST00000270509	D	0.99552	-6.15	3.79	3.79	0.43588	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99701	0.9886	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97174	0.9846	10	0.87932	D	0	.	16.0081	0.80377	0.0:1.0:0.0:0.0	.	1465	Q75N90	FBN3_HUMAN	S	1465	ENSP00000270509:G1465S	ENSP00000270509:G1465S	G	-	1	0	FBN3	8080578	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	5.522000	0.67092	1.830000	0.53286	0.484000	0.47621	GGC	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	38	0.00	0	C	NM_032447		8174578	8174578	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	T
FBXL5	26234	genome.wustl.edu	37	4	15613942	15613942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:15613942G>C	ENST00000341285.3	-	10	2070	c.1946C>G	c.(1945-1947)tCa>tGa	p.S649*	FBXL5_ENST00000412094.2_Nonsense_Mutation_p.S632*|FBXL5_ENST00000382358.4_Nonsense_Mutation_p.S523*	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	649					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGGACATGCTGAAACCAAATC	0.398																																						dbGAP											0													79.0	74.0	76.0					4																	15613942		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1946C>G	4.37:g.15613942G>C	ENSP00000344866:p.Ser649*		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.S649*	ENST00000341285.3	37	c.1946	CCDS3415.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.505888|9.505888	0.99190|0.99190	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|.	.|.	.|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.119767	.|0.64402	.|D	.|0.000016	T|.	0.82153|.	0.4975|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82532|.	-0.0410|.	4|.	.|0.66056	.|D	.|0.02	-3.2337|-3.2337	20.452|20.452	0.99131|0.99131	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	569|649;632;523	.|.	.|ENSP00000344866:S649X	F|S	-|-	3|2	2|0	FBXL5|FBXL5	15223040|15223040	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.829000|0.829000	0.46940|0.46940	9.869000|9.869000	0.99810|0.99810	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	TTC|TCA	FBXL5	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000118564		0.398	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	59	0.00	0	G			15613942	15613942	-1	no_errors	ENST00000341285	ensembl	human	known	69_37n	nonsense	53	18.46	12	SNP	1.000	C
FCRL5	83416	genome.wustl.edu	37	1	157509116	157509116	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:157509116C>T	ENST00000361835.3	-	7	1319	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	FCRL5_ENST00000368191.3_Missense_Mutation_p.E303K|FCRL5_ENST00000356953.4_Missense_Mutation_p.E388K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E388K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E388K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	388	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATCAGGTCCTCAGGAGAGCTG	0.483																																						dbGAP											0													66.0	67.0	67.0					1																	157509116		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1162G>A	1.37:g.157509116C>T	ENSP00000354691:p.Glu388Lys		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E388K	ENST00000361835.3	37	c.1162	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	0.810	-0.752209	0.03041	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	3.04	-3.7	0.04437	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.675380	0.00659	N	0.000592	T	0.00637	0.0021	N	0.16790	0.44	0.09310	N	1	P;B;B;P;B;P	0.38565	0.637;0.056;0.056;0.507;0.014;0.507	B;B;B;B;B;B	0.39590	0.205;0.104;0.042;0.304;0.018;0.304	T	0.42085	-0.9472	10	0.07030	T	0.85	.	4.1224	0.10111	0.0:0.3204:0.3383:0.3413	.	419;303;388;388;388;388	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	K	388;388;388;303;388	ENSP00000354691:E388K;ENSP00000349434:E388K;ENSP00000357173:E388K;ENSP00000357174:E303K;ENSP00000357172:E388K	ENSP00000349434:E388K	E	-	1	0	FCRL5	155775740	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.092000	0.01354	-0.522000	0.06417	0.313000	0.20887	GAG	FCRL5	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000143297		0.483	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	84	0.00	0	C	NM_031281		157509116	157509116	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	missense	49	37.18	29	SNP	0.000	T
FCRL6	343413	genome.wustl.edu	37	1	159778911	159778911	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:159778911C>T	ENST00000368106.3	+	4	481	c.480C>T	c.(478-480)ggC>ggT	p.G160G	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000339348.5_Silent_p.G160G|FCRL6_ENST00000321935.6_Silent_p.G167G	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	160	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGGACAGGGGCCCTCACCCAG	0.617																																						dbGAP											0													59.0	61.0	61.0					1																	159778911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.480C>T	1.37:g.159778911C>T			A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G160	ENST00000368106.3	37	c.480	CCDS30912.1	1																																																																																			FCRL6	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000181036		0.617	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	56	0.00	0	C	NM_001004310		159778911	159778911	+1	no_errors	ENST00000368106	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.000	T
FKBP15	23307	genome.wustl.edu	37	9	115941002	115941002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:115941002delT	ENST00000238256.3	-	20	2111	c.1994delA	c.(1993-1995)aagfs	p.K665fs		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	665					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCTGTTTCCTTTTTTTGGTG	0.498																																						dbGAP											0										21,3689		9,3,1843	51.0	47.0	49.0			-2.5	1.0	9		49	48,7884		17,14,3935	no	frameshift	FKBP15	NM_015258.1		26,17,5778	A1A1,A1R,RR		0.6051,0.566,0.5927			115941002	69,11573	1938	4146	6084	-	-	-	SO:0001589	frameshift_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1994delA	9.37:g.115941002delT	ENSP00000238256:p.Lys665fs		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.K665fs	ENST00000238256.3	37	c.1994	CCDS48007.1	9																																																																																			FKBP15	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000119321		0.498	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		148	0.00	0	T	NM_015258		115941002	115941002	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	frame_shift_del	93	31.21	44	DEL	1.000	-
FKBP8	23770	genome.wustl.edu	37	19	18652634	18652634	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:18652634C>G	ENST00000596558.2	-	2	256	c.147G>C	c.(145-147)ctG>ctC	p.L49L	FKBP8_ENST00000610101.1_Silent_p.L49L|FKBP8_ENST00000608443.1_Silent_p.L49L|FKBP8_ENST00000453489.2_Silent_p.L78L|FKBP8_ENST00000597960.3_Silent_p.L49L|FKBP8_ENST00000222308.4_Silent_p.L49L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	49	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCAGCTCACTCAGGTCAtcct	0.657																																						dbGAP											0													38.0	32.0	34.0					19																	18652634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.147G>C	19.37:g.18652634C>G			C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L78	ENST00000596558.2	37	c.234		19																																																																																			FKBP8	-	NULL	ENSG00000105701		0.657	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	47	0.00	0	C	NM_012181		18652634	18652634	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	1.000	G
FKBP8	23770	genome.wustl.edu	37	19	18652687	18652687	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:18652687C>G	ENST00000596558.2	-	2	203	c.94G>C	c.(94-96)Gat>Cat	p.D32H	FKBP8_ENST00000610101.1_Missense_Mutation_p.D32H|FKBP8_ENST00000608443.1_Missense_Mutation_p.D32H|FKBP8_ENST00000453489.2_Missense_Mutation_p.D61H|FKBP8_ENST00000597960.3_Missense_Mutation_p.D32H|FKBP8_ENST00000222308.4_Missense_Mutation_p.D32H			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	32	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCCTCTGCATCCTCAACCCCA	0.642																																						dbGAP											0													38.0	31.0	33.0					19																	18652687		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.94G>C	19.37:g.18652687C>G	ENSP00000472302:p.Asp32His		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.D61H	ENST00000596558.2	37	c.181		19	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746876	0.30955	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.42513	0.97;1.6;1.02	4.07	4.07	0.47477	.	0.270904	0.25663	N	0.029128	T	0.40570	0.1122	L	0.27053	0.805	0.21499	N	0.999665	D;D;D	0.63046	0.992;0.977;0.987	P;P;P	0.55824	0.615;0.615;0.785	T	0.14035	-1.0487	10	0.40728	T	0.16	-16.6399	9.1405	0.36901	0.0:0.8954:0.0:0.1046	.	61;32;32	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	H	32;32;61	ENSP00000222308:D32H;ENSP00000441267:D32H;ENSP00000388891:D61H	ENSP00000222308:D32H	D	-	1	0	FKBP8	18513687	0.218000	0.23608	0.825000	0.32803	0.466000	0.32739	1.870000	0.39529	2.003000	0.58678	0.491000	0.48974	GAT	FKBP8	-	NULL	ENSG00000105701		0.642	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	52	0.00	0	C	NM_012181		18652687	18652687	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.951	G
FOXN1	8456	genome.wustl.edu	37	17	26862049	26862049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:26862049delC	ENST00000226247.2	+	7	1489	c.1460delC	c.(1459-1461)accfs	p.T487fs	FOXN1_ENST00000579795.1_Frame_Shift_Del_p.T487fs	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	487					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGCCAGGCACCCCCCAGGAC	0.682																																						dbGAP											0													35.0	35.0	35.0					17																	26862049		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1460delC	17.37:g.26862049delC	ENSP00000226247:p.Thr487fs		B2R9Q7|O15352	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q489fs	ENST00000226247.2	37	c.1460	CCDS11232.1	17																																																																																			FOXN1	-	NULL	ENSG00000109101		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	16	0.00	0	C			26862049	26862049	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	frame_shift_del	8	38.46	5	DEL	1.000	-
FOXP3	50943	genome.wustl.edu	37	X	49107846	49107846	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:49107846C>T	ENST00000376207.4	-	12	1432	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	FOXP3_ENST00000557224.1_Silent_p.K440K|FOXP3_ENST00000455775.2_Silent_p.K388K|FOXP3_ENST00000518685.1_Silent_p.K380K|FOXP3_ENST00000376197.1_Silent_p.K425K|FOXP3_ENST00000376199.2_Silent_p.K380K	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	415					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GGCTCCGTTTCTTGCGGAACT	0.597																																					GBM(182;1432 2112 16160 23073 31774)	dbGAP											0													92.0	66.0	75.0					X																	49107846		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1245G>A	X.37:g.49107846C>T			A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.K415	ENST00000376207.4	37	c.1245	CCDS14323.1	X																																																																																			FOXP3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000049768		0.597	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	HGNC	protein_coding	OTTHUMT00000060814.1	105	0.00	0	C	NM_014009		49107846	49107846	-1	no_errors	ENST00000376207	ensembl	human	known	69_37n	silent	25	60.32	38	SNP	1.000	T
FREM3	166752	genome.wustl.edu	37	4	144619338	144619338	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:144619338C>T	ENST00000329798.5	-	1	2490	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	831					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TTGGTGACTTCTGGGGGCTGG	0.498																																						dbGAP											0													97.0	83.0	87.0					4																	144619338		692	1591	2283	-	-	-	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2491G>A	4.37:g.144619338C>T	ENSP00000332886:p.Glu831Lys			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E831K	ENST00000329798.5	37	c.2491	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	6.727	0.502931	0.12822	.	.	ENSG00000183090	ENST00000329798	T	0.50548	0.74	4.01	-3.05	0.05396	.	1.007180	0.07983	N	0.985993	T	0.30448	0.0765	L	0.31664	0.95	0.09310	N	1	.	.	.	.	.	.	T	0.29852	-0.9998	8	0.11485	T	0.65	1.337	7.6436	0.28309	0.0:0.2608:0.4898:0.2494	.	.	.	.	K	831	ENSP00000332886:E831K	ENSP00000332886:E831K	E	-	1	0	FREM3	144838788	0.000000	0.05858	0.049000	0.19019	0.927000	0.56198	-1.458000	0.02372	-1.028000	0.03321	0.655000	0.94253	GAA	FREM3	-	NULL	ENSG00000183090		0.498	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	101	0.98	1	C	XM_094074		144619338	144619338	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	32	60.49	49	SNP	0.005	T
FRMD4A	55691	genome.wustl.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:13696452delG	ENST00000357447.2	-	23	3382	c.3014delC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGCTGCTTGGGGGGGTGGC	0.537																																						dbGAP											0													83.0	80.0	81.0					10																	13696452		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3014delC	10.37:g.13696452delG	ENSP00000350032:p.Pro1005fs		A7E2Y3|Q5T377	Frame_Shift_Del	DEL	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P1005fs	ENST00000357447.2	37	c.3014	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.537	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	84	0.00	0	G	NM_018027		13696452	13696452	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	frame_shift_del	28	20.00	7	DEL	1.000	-
FRMPD1	22844	genome.wustl.edu	37	9	37744937	37744937	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:37744937C>G	ENST00000539465.1	+	16	3501	c.2908C>G	c.(2908-2910)Cac>Gac	p.H970D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.H970D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	970						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGCACTCCTCACTGTTCTAA	0.507																																						dbGAP											0													118.0	116.0	117.0					9																	37744937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2908C>G	9.37:g.37744937C>G	ENSP00000444411:p.His970Asp		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.H970D	ENST00000539465.1	37	c.2908	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577797	0.28180	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07114	3.22;3.22	5.17	0.938	0.19500	.	1.187990	0.05700	N	0.593976	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.12430	T	0.62	0.2711	3.0352	0.06119	0.2127:0.4619:0.0:0.3254	.	970	Q5SYB0	FRPD1_HUMAN	D	970	ENSP00000366995:H970D;ENSP00000444411:H970D	ENSP00000366995:H970D	H	+	1	0	FRMPD1	37734937	0.027000	0.19231	0.007000	0.13788	0.142000	0.21351	0.426000	0.21363	0.106000	0.17784	0.462000	0.41574	CAC	FRMPD1	-	NULL	ENSG00000070601		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	33	0.00	0	C	NM_014907		37744937	37744937	+1	no_errors	ENST00000377765	ensembl	human	known	69_37n	missense	40	28.57	16	SNP	0.006	G
FTO	79068	genome.wustl.edu	37	16	53860226	53860226	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:53860226G>C	ENST00000471389.1	+	3	796	c.574G>C	c.(574-576)Gac>Cac	p.D192H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	192	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGATGAAGTGGACATTAAGAG	0.453																																						dbGAP											0													161.0	140.0	147.0					16																	53860226		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.574G>C	16.37:g.53860226G>C	ENSP00000418823:p.Asp192His		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	NULL	p.D192H	ENST00000471389.1	37	c.574	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379144	0.61735	.	.	ENSG00000140718	ENST00000471389	T	0.64991	-0.13	5.32	5.32	0.75619	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.514587	0.24291	N	0.039804	T	0.64789	0.2630	L	0.44542	1.39	0.28373	N	0.919903	D	0.54397	0.966	P	0.55161	0.77	T	0.62224	-0.6899	10	0.54805	T	0.06	-8.7187	10.2168	0.43173	0.1228:0.0:0.8772:0.0	.	192	Q9C0B1	FTO_HUMAN	H	192	ENSP00000418823:D192H	ENSP00000418823:D192H	D	+	1	0	FTO	52417727	0.983000	0.35010	0.672000	0.29872	0.949000	0.60115	2.919000	0.48836	2.486000	0.83907	0.655000	0.94253	GAC	FTO	-	NULL	ENSG00000140718		0.453	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1	118	0.00	0	G	NM_001080432		53860226	53860226	+1	no_errors	ENST00000471389	ensembl	human	known	69_37n	missense	33	47.62	30	SNP	0.028	C
FZD10	11211	genome.wustl.edu	37	12	130648757	130648757	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:130648757C>T	ENST00000229030.4	+	1	1754	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	FZD10_ENST00000539839.1_Missense_Mutation_p.P391L|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	424					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTTCCACATCCGGAGGGTGAT	0.627																																						dbGAP											0													142.0	133.0	136.0					12																	130648757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1270C>T	12.37:g.130648757C>T	ENSP00000229030:p.Arg424Trp			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.R424W	ENST00000229030.4	37	c.1270	CCDS9267.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.27|11.27	1.590565|1.590565	0.28357|0.28357	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|D	.|0.85955	.|-2.05	5.1|5.1	4.14|4.14	0.48551|0.48551	.|GPCR, family 2-like (1);	.|0.000000	.|0.64402	.|U	.|0.000001	D|D	0.94295|0.94295	0.8167|0.8167	H|H	0.96239|0.96239	3.79|3.79	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95382|0.95382	0.8474|0.8474	6|10	0.87932|0.87932	D|D	0|0	.|.	12.7561|12.7561	0.57336|0.57336	0.2925:0.7075:0.0:0.0|0.2925:0.7075:0.0:0.0	.|.	.|424	.|Q9ULW2	.|FZD10_HUMAN	L|W	391|424	.|ENSP00000229030:R424W	ENSP00000438460:P391L|ENSP00000229030:R424W	P|R	+|+	2|1	0|2	FZD10|FZD10	129214710|129214710	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	1.416000|1.416000	0.34759|0.34759	2.360000|2.360000	0.80028|0.80028	0.561000|0.561000	0.74099|0.74099	CCG|CGG	FZD10	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000111432		0.627	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		130	0.00	0	C			130648757	130648757	+1	no_errors	ENST00000229030	ensembl	human	known	69_37n	missense	100	33.99	52	SNP	1.000	T
FZD5	7855	genome.wustl.edu	37	2	208632887	208632887	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:208632887G>A	ENST00000295417.3	-	2	1130	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	193					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AAGGGCTCGCGACACTTGCAC	0.701																																						dbGAP											0													23.0	24.0	24.0					2																	208632887		2201	4300	6501	-	-	-	SO:0001583	missense	0			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.577C>T	2.37:g.208632887G>A	ENSP00000354607:p.Arg193Cys		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R193C	ENST00000295417.3	37	c.577	CCDS33366.1	2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304421	0.60305	.	.	ENSG00000163251	ENST00000295417	T	0.80994	-1.44	4.68	4.68	0.58851	.	0.325534	0.24580	N	0.037308	D	0.86058	0.5842	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	D	0.87023	0.2130	10	0.72032	D	0.01	.	11.8003	0.52122	0.0:0.0:0.7171:0.2829	.	193	Q13467	FZD5_HUMAN	C	193	ENSP00000354607:R193C	ENSP00000354607:R193C	R	-	1	0	FZD5	208341132	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.360000	0.44151	2.437000	0.82529	0.561000	0.74099	CGC	FZD5	-	NULL	ENSG00000163251		0.701	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	17	0.00	0	G	NM_003468		208632887	208632887	-1	no_errors	ENST00000295417	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
G3BP2	9908	genome.wustl.edu	37	4	76570700	76570700	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:76570700G>T	ENST00000359707.4	-	12	2148	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	G3BP2_ENST00000395719.3_Missense_Mutation_p.P455T|G3BP2_ENST00000357854.3_Missense_Mutation_p.P422T	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	455	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCCCTTGGAGGAGGTCCTCTT	0.572																																						dbGAP											0													181.0	143.0	156.0					4																	76570700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1363C>A	4.37:g.76570700G>T	ENSP00000352738:p.Pro455Thr		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.P455T	ENST00000359707.4	37	c.1363	CCDS3571.1	4	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845713	0.71603	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.85258	-1.96;-1.96;-1.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.987	D	0.88351	0.2981	10	0.35671	T	0.21	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	422;455	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	T	455;455;422	ENSP00000379069:P455T;ENSP00000352738:P455T;ENSP00000350518:P422T	ENSP00000350518:P422T	P	-	1	0	G3BP2	76789724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.452000	0.80683	2.941000	0.99782	0.655000	0.94253	CCT	G3BP2	-	NULL	ENSG00000138757		0.572	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2	169	0.00	0	G	NM_012297		76570700	76570700	-1	no_errors	ENST00000359707	ensembl	human	known	69_37n	missense	82	46.41	71	SNP	1.000	T
GABRA3	2556	genome.wustl.edu	37	X	151336964	151336964	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:151336964G>C	ENST00000370314.4	-	10	1453	c.1215C>G	c.(1213-1215)atC>atG	p.I405M	GABRA3_ENST00000535043.1_Missense_Mutation_p.I405M|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	405					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGCCAGGTTGATGGGATAGG	0.542																																					NSCLC(142;2578 2613 10251 16743)	dbGAP											0													293.0	238.0	257.0					X																	151336964		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1215C>G	X.37:g.151336964G>C	ENSP00000359337:p.Ile405Met		Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I405M	ENST00000370314.4	37	c.1215	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242237	0.22796	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82167	-1.58;-1.58;-1.58	4.71	4.71	0.59529	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.429046	0.23561	N	0.046851	T	0.68513	0.3009	N	0.14661	0.345	0.29388	N	0.862828	B	0.24721	0.11	B	0.21917	0.037	T	0.63166	-0.6698	10	0.34782	T	0.22	.	10.4679	0.44618	0.0:0.1934:0.8066:0.0	.	405	P34903	GBRA3_HUMAN	M	405	ENSP00000359337:I405M;ENSP00000359334:I405M;ENSP00000443527:I405M	ENSP00000359334:I405M	I	-	3	3	GABRA3	151087620	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.529000	0.45632	2.069000	0.61940	0.597000	0.82753	ATC	GABRA3	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAa3_rcpt,tigrfam_Neur_channel	ENSG00000011677		0.542	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	254	0.00	0	G	NM_000808		151336964	151336964	-1	no_errors	ENST00000370311	ensembl	human	known	69_37n	missense	83	55.85	105	SNP	1.000	C
G6PD	2539	genome.wustl.edu	37	X	153760987	153760987	+	Missense_Mutation	SNP	G	G	A	rs137852345		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:153760987G>A	ENST00000393564.2	-	10	1194	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	G6PD_ENST00000369620.2_Missense_Mutation_p.A407V|G6PD_ENST00000393562.2_Missense_Mutation_p.A391V|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	361					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGTTCAGGGCCTTGCCGCA	0.637																																						dbGAP											0			GRCh37	CM973147	G6PD	M	rs137852345						36.0	31.0	33.0					X																	153760987		2201	4299	6500	-	-	-	SO:0001583	missense	0			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1082C>T	X.37:g.153760987G>A	ENSP00000377194:p.Ala361Val		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH	p.A407V	ENST00000393564.2	37	c.1220	CCDS44023.1	X	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662250	0.67700	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99841	-7.09;-7.09;-7.09	5.73	5.73	0.89815	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.96228	0.9166	10	0.72032	D	0.01	.	16.1477	0.81583	0.0:0.0:1.0:0.0	.	361;391	P11413;P11413-3	G6PD_HUMAN;.	V	391;361;361;407	ENSP00000377192:A391V;ENSP00000377194:A361V;ENSP00000358633:A407V	ENSP00000291567:A361V	A	-	2	0	G6PD	153414181	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.268000	0.95675	2.416000	0.81992	0.540000	0.68198	GCC	G6PD	-	pfam_G6P_DH_C,pirsf_G6P_DH,prints_G6P_DH	ENSG00000160211		0.637	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	HGNC	protein_coding	OTTHUMT00000061170.3	31	0.00	0	G	NM_000402		153760987	153760987	-1	no_errors	ENST00000369620	ensembl	human	known	69_37n	missense	8	66.67	16	SNP	1.000	A
GABRR3	200959	genome.wustl.edu	37	3	97731335	97731335	+	RNA	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:97731335C>T	ENST00000472788.1	-	0	384					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AAATGTCATGCTTTTGTTTGC	0.393																																						dbGAP											0													156.0	147.0	150.0					3																	97731335		1853	4108	5961	-	-	-			0			Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97731335C>T			Q9UIV9	Missense_Mutation	SNP	NULL	p.S128N	ENST00000472788.1	37	c.383		3																																																																																			GABRR3	-	NULL	ENSG00000183185		0.393	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	GABRR3	HGNC	polymorphic_pseudogene	OTTHUMT00000353445.2	166	0.00	0	C			97731335	97731335	-1	pseudogene	ENST00000472788	ensembl	human	known	69_37n	missense	90	32.84	44	SNP	1.000	T
GALK2	2585	genome.wustl.edu	37	15	49531449	49531449	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:49531449T>A	ENST00000560031.1	+	5	696	c.389T>A	c.(388-390)aTg>aAg	p.M130K	GALK2_ENST00000396509.2_Missense_Mutation_p.M106K|GALK2_ENST00000559454.1_Missense_Mutation_p.M106K|GALK2_ENST00000543495.1_Start_Codon_SNP_p.M1K|GALK2_ENST00000327171.3_Missense_Mutation_p.M119K|GALK2_ENST00000544523.1_Missense_Mutation_p.M106K|GALK2_ENST00000561014.1_3'UTR			Q01415	GALK2_HUMAN	galactokinase 2	130					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CTGACTGGAATGAACTGCCTG	0.448																																						dbGAP											0													160.0	133.0	142.0					15																	49531449		2196	4295	6491	-	-	-	SO:0001583	missense	0				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.389T>A	15.37:g.49531449T>A	ENSP00000453129:p.Met130Lys		Q7Z4Q4	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase	p.M130K	ENST00000560031.1	37	c.389	CCDS42034.1	15	.	.	.	.	.	.	.	.	.	.	T	31	5.064386	0.93898	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;D;D	0.84070	-1.8;-1.8;-1.8	4.96	4.96	0.65561	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.86953	2.85	0.80722	D	1	P;P	0.47962	0.903;0.806	P;P	0.47015	0.534;0.534	D	0.90279	0.4313	10	0.87932	D	0	-34.6346	14.9393	0.70980	0.0:0.0:0.0:1.0	.	130;119	Q01415;Q7Z4Q4	GALK2_HUMAN;.	K	119;130;1;106	ENSP00000316632:M119K;ENSP00000443220:M1K;ENSP00000440312:M106K	ENSP00000316632:M119K	M	+	2	0	GALK2	47318741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.285000	0.78660	1.993000	0.58246	0.533000	0.62120	ATG	GALK2	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Galactokinase,tigrfam_Galactokinase	ENSG00000156958		0.448	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GALK2	HGNC	protein_coding	OTTHUMT00000417854.1	147	0.00	0	T			49531449	49531449	+1	no_errors	ENST00000560031	ensembl	human	known	69_37n	missense	77	32.46	37	SNP	1.000	A
GALNT13	114805	genome.wustl.edu	37	2	155115572	155115572	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:155115572G>A	ENST00000392825.3	+	8	1463	c.896G>A	c.(895-897)aGa>aAa	p.R299K	GALNT13_ENST00000409237.1_Missense_Mutation_p.R299K|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	299	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTATTGACAGAAACTACTTT	0.333																																						dbGAP											0													96.0	102.0	100.0					2																	155115572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.896G>A	2.37:g.155115572G>A	ENSP00000376570:p.Arg299Lys		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R299K	ENST00000392825.3	37	c.896	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220939	0.39201	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.65178	-0.14;-0.14	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	0.047828	0.85682	D	0.000000	T	0.47544	0.1451	N	0.20445	0.575	0.51012	D	0.999908	B;B;B;B	0.12013	0.001;0.001;0.005;0.001	B;B;B;B	0.20955	0.032;0.01;0.014;0.01	T	0.44726	-0.9309	10	0.06365	T	0.9	.	19.1513	0.93491	0.0:0.0:1.0:0.0	.	299;299;299;299	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	K	299	ENSP00000376570:R299K;ENSP00000387239:R299K	ENSP00000376570:R299K	R	+	2	0	GALNT13	154823818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.404000	0.66344	2.772000	0.95346	0.650000	0.86243	AGA	GALNT13	-	pfam_Glyco_trans_2	ENSG00000144278		0.333	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	177	0.00	0	G	NM_052917		155115572	155115572	+1	no_errors	ENST00000409237	ensembl	human	known	69_37n	missense	130	15.58	24	SNP	1.000	A
GALNT5	11227	genome.wustl.edu	37	2	158153015	158153015	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:158153015G>C	ENST00000259056.4	+	5	2472	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	663					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAAGAAACTGATACAATAAG	0.333																																						dbGAP											0													96.0	94.0	95.0					2																	158153015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1987G>C	2.37:g.158153015G>C	ENSP00000259056:p.Asp663His		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.D663H	ENST00000259056.4	37	c.1987	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006924	0.74932	.	.	ENSG00000136542	ENST00000259056	T	0.61627	0.09	5.77	5.77	0.91146	Glycosyl transferase, family 2 (1);	0.105732	0.64402	D	0.000007	T	0.66056	0.2751	M	0.73962	2.25	0.58432	D	0.999994	P	0.35684	0.515	B	0.40636	0.335	T	0.66240	-0.5973	10	0.48119	T	0.1	.	19.5879	0.95497	0.0:0.0:1.0:0.0	.	663	Q7Z7M9	GALT5_HUMAN	H	663	ENSP00000259056:D663H	ENSP00000259056:D663H	D	+	1	0	GALNT5	157861261	1.000000	0.71417	0.991000	0.47740	0.781000	0.44180	8.439000	0.90308	2.745000	0.94114	0.650000	0.86243	GAT	GALNT5	-	pfam_Glyco_trans_2	ENSG00000136542		0.333	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	98	0.00	0	G	NM_014568		158153015	158153015	+1	no_errors	ENST00000259056	ensembl	human	known	69_37n	missense	91	34.06	47	SNP	0.999	C
GARNL3	84253	genome.wustl.edu	37	9	130111209	130111209	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:130111209G>A	ENST00000373387.4	+	17	1790	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	GARNL3_ENST00000314904.5_Missense_Mutation_p.E480K|GARNL3_ENST00000435213.2_Missense_Mutation_p.E458K	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.E462K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACAGCCGTGGGAGCCCCAGTG	0.517																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											134.0	115.0	121.0					9																	130111209		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1438G>A	9.37:g.130111209G>A	ENSP00000362485:p.Glu480Lys		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.E480K	ENST00000373387.4	37	c.1438	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	35	5.536406	0.96460	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.89196	-2.46;-2.43;-2.48	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.69823	2.125	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.58172	0.834;0.834	D	0.91853	0.5493	9	.	.	.	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	480;458	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	K	458;480;480	ENSP00000396205:E458K;ENSP00000313970:E480K;ENSP00000362485:E480K	.	E	+	1	0	GARNL3	129151030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.941000	0.99782	0.655000	0.94253	GAG	GARNL3	-	NULL	ENSG00000136895		0.517	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	160	0.62	1	G	NM_032293		130111209	130111209	+1	no_errors	ENST00000373387	ensembl	human	known	69_37n	missense	117	32.76	57	SNP	1.000	A
GAS6	2621	genome.wustl.edu	37	13	114541067	114541067	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:114541067G>C	ENST00000327773.6	-	6	710	c.564C>G	c.(562-564)ctC>ctG	p.L188L	GAS6_ENST00000357389.3_Silent_p.L188L|GAS6_ENST00000450766.1_5'Flank|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Silent_p.L134L	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	188	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)	p.L188L(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CATCAGAGGAGAGCTCGAAGC	0.592																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											94.0	88.0	90.0					13																	114541067		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.564C>G	13.37:g.114541067G>C			B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.L188	ENST00000327773.6	37	c.564	CCDS45072.1	13																																																																																			GAS6	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000183087		0.592	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	53	0.00	0	G	NM_000820		114541067	114541067	-1	no_errors	ENST00000357389	ensembl	human	known	69_37n	silent	15	31.82	7	SNP	0.002	C
GATA3	2625	genome.wustl.edu	37	10	8106094	8106094	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:8106094G>A	ENST00000346208.3	+	4	1369	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	GATA3_ENST00000379328.3_Missense_Mutation_p.R306Q|GATA3_ENST00000461472.1_Intron			P23771	GATA3_HUMAN	GATA binding protein 3	305	Flexible linker.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AAGCCCAAGCGAAGGCTGGTA	0.547			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													100.0	94.0	96.0					10																	8106094		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.914G>A	10.37:g.8106094G>A	ENSP00000341619:p.Arg305Gln		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.R306Q	ENST00000346208.3	37	c.917	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.478546	0.96291	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99671	-6.35;-6.35	5.29	5.29	0.74685	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	L	0.59436	1.845	0.80722	D	1	D;D	0.65815	0.995;0.986	P;P	0.58970	0.849;0.81	D	0.99239	1.0884	10	0.66056	D	0.02	-8.9553	19.3089	0.94177	0.0:0.0:1.0:0.0	.	305;306	P23771;P23771-2	GATA3_HUMAN;.	Q	306;305	ENSP00000368632:R306Q;ENSP00000341619:R305Q	ENSP00000341619:R305Q	R	+	2	0	GATA3	8146100	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.813000	0.99286	2.625000	0.88918	0.655000	0.94253	CGA	GATA3	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.547	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	81	0.00	0	G	NM_001002295		8106094	8106094	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	1.000	A
MTX1	4580	genome.wustl.edu	37	1	155184145	155184145	+	IGR	SNP	G	G	C	rs546585292		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:155184145G>C	ENST00000368376.3	+	0	1632				GBAP1_ENST00000486869.1_RNA|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCCTCCTTGAGTATCTGCT	0.557																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708		1.37:g.155184145G>C			B1AVR9|B1AVS0|B2R9P4|Q9BUU3	RNA	SNP	-	NULL	ENST00000368376.3	37	NULL	CCDS1100.1	1																																																																																			GBAP1	-	-	ENSG00000160766		0.557	MTX1-001	KNOWN	basic|CCDS	protein_coding	GBAP1	HGNC	protein_coding	OTTHUMT00000086844.1	36	0.00	0	G	NM_198883		155184145	155184145	-1	no_errors	ENST00000368374	ensembl	human	known	69_37n	rna	16	55.56	20	SNP	0.069	C
GIGYF2	26058	genome.wustl.edu	37	2	233655742	233655742	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:233655742G>A	ENST00000409547.1	+	13	1266	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	GIGYF2_ENST00000409480.1_Missense_Mutation_p.E341K|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E341K|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E319K|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E341K|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E313K|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E150K	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	319					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCCTATTCCAGAAGAGCAGGA	0.448																																						dbGAP											0													63.0	67.0	66.0					2																	233655742		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.955G>A	2.37:g.233655742G>A	ENSP00000386537:p.Glu319Lys		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E341K	ENST00000409547.1	37	c.1021	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481849	0.84747	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000424414;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;T;D;D	0.85955	-0.79;-0.82;-0.79;-0.82;-0.96;-0.79;-0.79;-0.92;-1.48;-0.75;-2.05;-1.91	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.65975	2.015	0.50632	D	0.999883	D;D;B;D	0.89917	0.999;1.0;0.009;0.998	D;D;B;D	0.87578	0.997;0.998;0.012;0.993	D	0.91290	0.5058	10	0.59425	D	0.04	-18.8738	14.0221	0.64563	0.0728:0.0:0.9272:0.0	.	150;341;319;313	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	K	341;262;319;341;319;319;262;313;341;313;71;150;71;101	ENSP00000362667:E341K;ENSP00000362664:E319K;ENSP00000386765:E341K;ENSP00000386537:E319K;ENSP00000404195:E262K;ENSP00000387070:E313K;ENSP00000387170:E341K;ENSP00000410297:E313K;ENSP00000401261:E71K;ENSP00000411505:E150K;ENSP00000398055:E71K;ENSP00000387276:E101K	ENSP00000362664:E319K	E	+	1	0	GIGYF2	233363986	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.512000	0.98008	1.271000	0.44313	-0.136000	0.14681	GAA	GIGYF2	-	NULL	ENSG00000204120		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	75	0.00	0	G	NM_001103146		233655742	233655742	+1	no_errors	ENST00000373566	ensembl	human	known	69_37n	missense	34	40.35	23	SNP	1.000	A
GINS1	9837	genome.wustl.edu	37	20	25388530	25388530	+	Splice_Site	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:25388530A>G	ENST00000262460.4	+	1	168	c.74A>G	c.(73-75)aAc>aGc	p.N25S	GINS1_ENST00000429262.2_Splice_Site_p.N25S|GINS1_ENST00000484893.1_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	25					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CCTGCCTTCAACGTGAGGGGC	0.672																																						dbGAP											0													30.0	27.0	28.0					20																	25388530		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.75+1A>G	20.37:g.25388530A>G			Q9NQE2|Q9NQI7	Missense_Mutation	SNP	NULL	p.N25S	ENST00000262460.4	37	c.74	CCDS33451.1	20	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727901	0.89390	.	.	ENSG00000101003	ENST00000262460;ENST00000429262	T;T	0.49720	0.77;0.77	4.02	4.02	0.46733	.	0.106709	0.64402	D	0.000014	T	0.62708	0.2450	M	0.81112	2.525	0.58432	D	0.999997	D	0.69078	0.997	P	0.56434	0.798	T	0.68519	-0.5387	10	0.56958	D	0.05	-5.3918	12.3498	0.55143	1.0:0.0:0.0:0.0	.	25	Q14691	PSF1_HUMAN	S	25	ENSP00000262460:N25S;ENSP00000408669:N25S	ENSP00000262460:N25S	N	+	2	0	GINS1	25336530	0.999000	0.42202	0.986000	0.45419	0.894000	0.52154	4.165000	0.58196	1.808000	0.52836	0.460000	0.39030	AAC	GINS1	-	NULL	ENSG00000101003		0.672	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS1	HGNC	protein_coding	OTTHUMT00000078433.1	34	0.00	0	A	NM_021067	Missense_Mutation	25388530	25388530	+1	no_errors	ENST00000262460	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	G
GLDC	2731	genome.wustl.edu	37	9	6644693	6644693	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:6644693C>T	ENST00000321612.6	-	2	406		c.e2-1		RP11-390F4.6_ENST00000413145.1_lincRNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CATCAATGCTCTAAAATTAAA	0.468																																						dbGAP											0													65.0	62.0	63.0					9																	6644693		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.256-1G>A	9.37:g.6644693C>T			Q2M2F8	Splice_Site	SNP	-	e2-1	ENST00000321612.6	37	c.256-1	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875791	0.72180	.	.	ENSG00000178445	ENST00000321612	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6738	0.88225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLDC	6634693	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.176000	0.71955	2.353000	0.79882	0.462000	0.41574	.	GLDC	-	-	ENSG00000178445		0.468	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	58	0.00	0	C	NM_000170	Intron	6644693	6644693	-1	no_errors	ENST00000321612	ensembl	human	known	69_37n	splice_site	41	35.94	23	SNP	1.000	T
GLTSCR1	29998	genome.wustl.edu	37	19	48197891	48197891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:48197891delC	ENST00000396720.3	+	8	2997	c.2803delC	c.(2803-2805)cccfs	p.P940fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	940	Poly-Pro.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGGCAGCACCCCCCCCACC	0.672																																						dbGAP											0										33,53,3378		2,0,29,2,49,1650	14.0	16.0	16.0			-4.0	0.0	19		16	51,107,7600		1,0,49,8,91,3730	no	codingComplex	GLTSCR1	NM_015711.3		3,0,78,10,140,5380	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0366,2.4827,2.1743			48197891	84,160,10978	1829	4072	5901	-	-	-	SO:0001589	frameshift_variant	0			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2803delC	19.37:g.48197891delC	ENSP00000379946:p.Pro940fs		A8MW01	Frame_Shift_Del	DEL	NULL	p.P937fs	ENST00000396720.3	37	c.2803	CCDS46134.1	19																																																																																			GLTSCR1	-	NULL	ENSG00000063169		0.672	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	15	0.00	0	C	NM_015711		48197891	48197891	+1	no_errors	ENST00000396720	ensembl	human	known	69_37n	frame_shift_del	3	62.50	5	DEL	0.226	-
GLTSCR1	29998	genome.wustl.edu	37	19	48198190	48198190	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:48198190delG	ENST00000396720.3	+	9	3123	c.2929delG	c.(2929-2931)gggfs	p.G978fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	978										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GAACAAGGCTGGGGGGGCCCC	0.692																																						dbGAP											0										18,3514		0,18,1748	16.0	19.0	18.0			-5.6	0.0	19		18	30,7738		5,20,3859	no	frameshift	GLTSCR1	NM_015711.3		5,38,5607	A1A1,A1R,RR		0.3862,0.5096,0.4248			48198190	48,11252	1856	4075	5931	-	-	-	SO:0001589	frameshift_variant	0			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2929delG	19.37:g.48198190delG	ENSP00000379946:p.Gly978fs		A8MW01	Frame_Shift_Del	DEL	NULL	p.A979fs	ENST00000396720.3	37	c.2929	CCDS46134.1	19																																																																																			GLTSCR1	-	NULL	ENSG00000063169		0.692	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	36	0.00	0	G	NM_015711		48198190	48198190	+1	no_errors	ENST00000396720	ensembl	human	known	69_37n	frame_shift_del	4	37.50	3	DEL	0.010	-
GM2A	2760	genome.wustl.edu	37	5	150646902	150646902	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:150646902G>A	ENST00000357164.3	+	4	797	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	158					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGACCTGGAGCTGCCCAG	0.592																																						dbGAP											0													83.0	72.0	76.0					5																	150646902		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.472G>A	5.37:g.150646902G>A	ENSP00000349687:p.Glu158Lys		B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Missense_Mutation	SNP	smart_MD-2_lipid-recog	p.E158K	ENST00000357164.3	37	c.472	CCDS4313.1	5	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740293	0.30865	.	.	ENSG00000196743	ENST00000357164	T	0.70869	-0.52	5.24	4.17	0.49024	MD-2-related lipid-recognition (1);	0.287190	0.43579	D	0.000549	T	0.59878	0.2226	L	0.45137	1.4	0.48395	D	0.999645	B	0.25048	0.117	B	0.20384	0.029	T	0.59553	-0.7433	10	0.42905	T	0.14	-2.7794	10.0782	0.42373	0.175:0.0:0.825:0.0	.	158	P17900	SAP3_HUMAN	K	158	ENSP00000349687:E158K	ENSP00000349687:E158K	E	+	1	0	GM2A	150627095	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	3.763000	0.55257	2.442000	0.82660	0.455000	0.32223	GAG	GM2A	-	smart_MD-2_lipid-recog	ENSG00000196743		0.592	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GM2A	HGNC	protein_coding	OTTHUMT00000252432.1	73	0.00	0	G	NM_000405		150646902	150646902	+1	no_errors	ENST00000357164	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	1.000	A
GMPPB	29925	genome.wustl.edu	37	3	49759422	49759422	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:49759422G>A	ENST00000480687.1	-	9	1043	c.927C>T	c.(925-927)ggC>ggT	p.G309G	AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308375.6_Silent_p.G309G|GMPPB_ENST00000308388.6_Silent_p.G309G|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	309					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGCGCCAGCCCACAATGC	0.667																																						dbGAP											0													71.0	63.0	66.0					3																	49759422		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.927C>T	3.37:g.49759422G>A			A8K6N5|Q9H7U3	Silent	SNP	pfam_NTP_transferase,pfam_Hexapep_transf	p.G309	ENST00000480687.1	37	c.927	CCDS2803.1	3																																																																																			GMPPB	-	NULL	ENSG00000173540		0.667	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPPB	HGNC	protein_coding	OTTHUMT00000350291.1	30	0.00	0	G	NM_013334		49759422	49759422	-1	no_errors	ENST00000308375	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	1.000	A
GNPDA2	132789	genome.wustl.edu	37	4	44724209	44724209	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:44724209G>A	ENST00000295448.3	-	2	172	c.16C>T	c.(16-18)Ctt>Ttt	p.L6F	GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000509756.1_Missense_Mutation_p.L6F|GNPDA2_ENST00000507917.1_Missense_Mutation_p.L6F	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	6					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAGTTATCAAGAATTACAAGC	0.378																																					Colon(54;743 1010 7604 16453 19544)	dbGAP											0													92.0	85.0	88.0					4																	44724209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.16C>T	4.37:g.44724209G>A	ENSP00000295448:p.Leu6Phe		B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Missense_Mutation	SNP	pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase	p.L6F	ENST00000295448.3	37	c.16	CCDS3469.1	4	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524496	0.64747	.	.	ENSG00000163281	ENST00000507917;ENST00000295448;ENST00000509756	T;T;T	0.62639	0.01;0.01;0.01	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.56499	0.1989	L	0.55481	1.735	0.80722	D	1	B;B;B	0.19817	0.001;0.039;0.001	B;B;B	0.19148	0.006;0.024;0.007	T	0.56661	-0.7942	10	0.56958	D	0.05	-16.1142	11.2314	0.48914	0.0826:0.0:0.9174:0.0	.	6;6;6	Q2VYF1;Q8TDQ7-3;Q8TDQ7	.;.;GNPI2_HUMAN	F	6	ENSP00000425868:L6F;ENSP00000295448:L6F;ENSP00000424061:L6F	ENSP00000295448:L6F	L	-	1	0	GNPDA2	44418966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.649000	0.89929	0.655000	0.94253	CTT	GNPDA2	-	tigrfam_Glucosamine6P_isomerase	ENSG00000163281		0.378	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPDA2	HGNC	protein_coding	OTTHUMT00000216874.3	81	0.00	0	G	NM_138335		44724209	44724209	-1	no_errors	ENST00000295448	ensembl	human	known	69_37n	missense	71	24.47	23	SNP	1.000	A
GPR12	2835	genome.wustl.edu	37	13	27333511	27333511	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:27333511T>A	ENST00000381436.2	-	1	916	c.454A>T	c.(454-456)Agg>Tgg	p.R152W	GPR12_ENST00000405846.3_Missense_Mutation_p.R152W			P47775	GPR12_HUMAN	G protein-coupled receptor 12	152					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GTGACCGTCCTCTCCGAATGG	0.577																																						dbGAP											0													94.0	76.0	82.0					13																	27333511		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.454A>T	13.37:g.27333511T>A	ENSP00000370844:p.Arg152Trp		Q5T8P3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt,prints_7TM_GPCR_Rhodpsn	p.R152W	ENST00000381436.2	37	c.454	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726693	0.69074	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.39787	1.06;1.06	5.36	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.89715	3.055	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.73877	-0.3844	10	0.72032	D	0.01	.	11.9073	0.52719	0.0:0.0:0.2754:0.7245	.	152	P47775	GPR12_HUMAN	W	152	ENSP00000384932:R152W;ENSP00000370844:R152W	ENSP00000370844:R152W	R	-	1	2	GPR12	26231511	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.711000	0.47177	0.872000	0.35775	-0.488000	0.04728	AGG	GPR12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000132975		0.577	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	44	0.00	0	T			27333511	27333511	-1	no_errors	ENST00000381436	ensembl	human	known	69_37n	missense	13	48.00	12	SNP	1.000	A
GPR173	54328	genome.wustl.edu	37	X	53106178	53106178	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:53106178C>T	ENST00000332582.4	+	2	866	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	125					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						ACATGGCCATCGCCCACCACC	0.597																																						dbGAP											0													68.0	52.0	58.0					X																	53106178		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.375C>T	X.37:g.53106178C>T			B1B0A5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.I125	ENST00000332582.4	37	c.375	CCDS14349.1	X																																																																																			GPR173	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000184194		0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	43	0.00	0	C	NM_018969		53106178	53106178	+1	no_errors	ENST00000332582	ensembl	human	known	69_37n	silent	13	45.83	11	SNP	0.991	T
GPR180	160897	genome.wustl.edu	37	13	95271495	95271495	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:95271495C>T	ENST00000376958.4	+	4	622	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	199					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTAAGAAAGGCGGACCCATGC	0.398																																						dbGAP											0													179.0	171.0	174.0					13																	95271495		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.597C>T	13.37:g.95271495C>T			A8K1D5	Silent	SNP	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk	p.G199	ENST00000376958.4	37	c.597	CCDS9472.1	13																																																																																			GPR180	-	pfam_Rhodopsin-like_GPCR_TM_domain,pfam_TM_rcpt_euk	ENSG00000152749		0.398	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	HGNC	protein_coding	OTTHUMT00000045465.3	236	0.00	0	C	NM_180989		95271495	95271495	+1	no_errors	ENST00000376958	ensembl	human	known	69_37n	silent	72	47.68	72	SNP	0.998	T
GPR56	9289	genome.wustl.edu	37	16	57689382	57689382	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:57689382G>A	ENST00000388812.4	+	6	1280	c.840G>A	c.(838-840)cgG>cgA	p.R280R	GPR56_ENST00000456916.1_Silent_p.R280R|GPR56_ENST00000540164.2_Silent_p.R280R|GPR56_ENST00000568908.1_Silent_p.R280R|GPR56_ENST00000538815.1_Silent_p.R280R|GPR56_ENST00000388813.5_Silent_p.R280R|GPR56_ENST00000567835.1_Silent_p.R280R|GPR56_ENST00000562558.1_Silent_p.R280R|GPR56_ENST00000568909.1_Silent_p.R280R|GPR56_ENST00000379694.4_Silent_p.R110R|GPR56_ENST00000379696.3_Silent_p.R280R|GPR56_ENST00000562631.1_Silent_p.R280R|GPR56_ENST00000544297.1_Silent_p.R105R			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	280					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CGAAAGGCCGGAGCGGGGAGG	0.602																																						dbGAP											0													51.0	55.0	54.0					16																	57689382		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.840G>A	16.37:g.57689382G>A			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	NULL	p.E109K	ENST00000388812.4	37	c.325	CCDS32460.1	16																																																																																			GPR56	-	NULL	ENSG00000205336		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	29	0.00	0	G			57689382	57689382	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000565391	ensembl	human	putative	69_37n	missense	3	70.00	7	SNP	0.603	A
GPR62	118442	genome.wustl.edu	37	3	51989737	51989737	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:51989737C>T	ENST00000322241.4	+	1	408	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGCAGCTGTCGTGGAGGTGG	0.677																																						dbGAP											0													45.0	36.0	39.0					3																	51989737		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.69C>T	3.37:g.51989737C>T			F1DAM4|Q5KU27	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V23	ENST00000322241.4	37	c.69	CCDS2838.1	3																																																																																			GPR62	-	prints_7TM_GPCR_Rhodpsn	ENSG00000180929		0.677	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR62	HGNC	protein_coding	OTTHUMT00000348611.1	31	0.00	0	C			51989737	51989737	+1	no_errors	ENST00000322241	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.466	T
GPR75	10936	genome.wustl.edu	37	2	54081853	54081853	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:54081853G>A	ENST00000394705.2	-	2	311	c.41C>T	c.(40-42)aCc>aTc	p.T14I	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	14					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGGAGCGAGGTGGCATTGGG	0.527																																						dbGAP											0													126.0	120.0	122.0					2																	54081853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.41C>T	2.37:g.54081853G>A	ENSP00000378195:p.Thr14Ile		B2RC02|Q6NWR2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T14I	ENST00000394705.2	37	c.41	CCDS1849.1	2	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983650	0.35036	.	.	ENSG00000119737	ENST00000394705	T	0.25250	1.81	5.54	3.6	0.41247	.	0.214505	0.39759	N	0.001268	T	0.26846	0.0657	.	.	.	0.26023	N	0.981845	B	0.29301	0.241	B	0.35813	0.211	T	0.29579	-1.0007	9	0.87932	D	0	-12.5534	13.3669	0.60689	0.0:0.3001:0.6999:0.0	.	14	O95800	GPR75_HUMAN	I	14	ENSP00000378195:T14I	ENSP00000378195:T14I	T	-	2	0	GPR75	53935357	1.000000	0.71417	0.462000	0.27118	0.931000	0.56810	2.855000	0.48333	1.273000	0.44346	0.561000	0.74099	ACC	GPR75	-	NULL	ENSG00000119737		0.527	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	39	0.00	0	G			54081853	54081853	-1	no_errors	ENST00000394705	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.592	A
GRASP	160622	genome.wustl.edu	37	12	52407499	52407499	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:52407499G>C	ENST00000293662.4	+	5	563	c.483G>C	c.(481-483)ctG>ctC	p.L161L	GRASP_ENST00000552049.1_Silent_p.L18L|GRASP_ENST00000380039.2_Silent_p.L18L|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	161	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TCAATGGCCTGAATGTGGAAG	0.552																																						dbGAP											0													95.0	86.0	89.0					12																	52407499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.483G>C	12.37:g.52407499G>C			Q6PIF8|Q7Z741	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L161	ENST00000293662.4	37	c.483	CCDS8817.1	12																																																																																			GRASP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000161835		0.552	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	68	0.00	0	G			52407499	52407499	+1	no_errors	ENST00000293662	ensembl	human	known	69_37n	silent	41	33.87	21	SNP	0.743	C
GRID2IP	392862	genome.wustl.edu	37	7	6550320	6550320	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:6550320C>T	ENST00000457091.2	-	10	1572	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	GRID2IP_ENST00000435185.1_Missense_Mutation_p.E341K|GRID2IP_ENST00000452113.1_Missense_Mutation_p.E334K	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	525					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						AGAGGCATCTCAGGGCACTCG	0.642																																						dbGAP											0													93.0	107.0	103.0					7																	6550320		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1573G>A	7.37:g.6550320C>T	ENSP00000397351:p.Glu525Lys			Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ	p.E525K	ENST00000457091.2	37	c.1573	CCDS47537.1	7	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965447	0.92855	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.44482	0.93;0.93;0.92	4.87	4.87	0.63330	.	0.164121	0.38005	U	0.001855	T	0.39410	0.1077	L	0.54323	1.7	0.47994	D	0.999566	P	0.37781	0.608	B	0.32980	0.156	T	0.47289	-0.9129	10	0.87932	D	0	.	15.8949	0.79326	0.0:1.0:0.0:0.0	.	525	A4D2P6	GRD2I_HUMAN	K	334;341;525	ENSP00000397887:E334K;ENSP00000408364:E341K;ENSP00000397351:E525K	ENSP00000408364:E341K	E	-	1	0	GRID2IP	6516845	0.998000	0.40836	0.945000	0.38365	0.840000	0.47671	4.052000	0.57420	2.418000	0.82041	0.462000	0.41574	GAG	GRID2IP	-	NULL	ENSG00000215045		0.642	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	64	0.00	0	C	XM_294249		6550320	6550320	-1	no_errors	ENST00000457091	ensembl	human	putative	69_37n	missense	8	50.00	8	SNP	0.995	T
GRIK1	2897	genome.wustl.edu	37	21	30949301	30949301	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:30949301T>C	ENST00000399907.1	-	14	2524	c.2113A>G	c.(2113-2115)Aca>Gca	p.T705A	GRIK1_ENST00000399913.1_Missense_Mutation_p.T705A|GRIK1_ENST00000389124.2_Missense_Mutation_p.T705A|GRIK1_ENST00000327783.4_Missense_Mutation_p.T705A|GRIK1_ENST00000535441.1_Missense_Mutation_p.T707A|GRIK1_ENST00000399914.1_Missense_Mutation_p.T690A|GRIK1_ENST00000399909.1_Missense_Mutation_p.T690A|GRIK1_ENST00000389125.3_Missense_Mutation_p.T690A|GRIK1_ENST00000309434.7_Missense_Mutation_p.T707A	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	705	Glutamate binding. {ECO:0000250}.				adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AAGGTCATTGTTGATCCATCT	0.393																																						dbGAP											0													94.0	93.0	93.0					21																	30949301		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2113A>G	21.37:g.30949301T>C	ENSP00000382791:p.Thr705Ala		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T707A	ENST00000399907.1	37	c.2119	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399178	0.83120	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.3	5.3	0.74995	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.50634	-0.8805	10	0.87932	D	0	.	15.073	0.72053	0.0:0.0:0.0:1.0	.	690;705;705;690	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	A	705;690;705;690;707;566;705;705;690;707	ENSP00000327687:T705A;ENSP00000373777:T690A;ENSP00000382797:T705A;ENSP00000382798:T690A;ENSP00000446326:T707A;ENSP00000373776:T705A;ENSP00000382791:T705A;ENSP00000382793:T690A;ENSP00000311646:T707A	ENSP00000311646:T707A	T	-	1	0	GRIK1	29871172	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	7.810000	0.86072	2.232000	0.73038	0.528000	0.53228	ACA	GRIK1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000171189		0.393	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	97	0.00	0	T			30949301	30949301	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	38	44.12	30	SNP	1.000	C
GRTP1	79774	genome.wustl.edu	37	13	113980339	113980339	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:113980339C>T	ENST00000375431.4	-	6	704	c.630G>A	c.(628-630)gcG>gcA	p.A210A	GRTP1_ENST00000375430.4_Silent_p.A210A|GRTP1_ENST00000326039.3_Silent_p.A132A	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	210	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCGGCAGCTTCGCCCGCACCA	0.642																																						dbGAP											0													53.0	65.0	61.0					13																	113980339		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.630G>A	13.37:g.113980339C>T			B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A210	ENST00000375431.4	37	c.630	CCDS9534.2	13																																																																																			GRTP1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000139835		0.642	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	GRTP1	HGNC	protein_coding	OTTHUMT00000045882.5	35	0.00	0	C	NM_024719		113980339	113980339	-1	no_errors	ENST00000375430	ensembl	human	known	69_37n	silent	8	50.00	8	SNP	0.898	T
H3F3C	440093	genome.wustl.edu	37	12	31944956	31944956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:31944956G>A	ENST00000340398.3	-	1	219	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	49					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602										HNSCC(67;0.2)																												dbGAP											0													68.0	64.0	65.0					12																	31944956		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.145C>T	12.37:g.31944956G>A	ENSP00000339835:p.Arg49*		E9P281	Nonsense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R49*	ENST00000340398.3	37	c.145	CCDS31769.1	12	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101334	0.56183	.	.	ENSG00000188375	ENST00000340398	.	.	.	1.3	0.33	0.15929	.	54.597900	0.00883	U	0.002159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7129	0.17945	0.2063:0.0:0.7937:0.0	.	.	.	.	X	49	.	ENSP00000339835:R49X	R	-	1	2	H3F3C	31836223	0.908000	0.30866	0.001000	0.08648	0.040000	0.13550	1.468000	0.35332	0.126000	0.18424	0.413000	0.27773	CGA	H3F3C	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000188375		0.602	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3C	HGNC	protein_coding	OTTHUMT00000349653.1	66	0.00	0	G	NM_001013699		31944956	31944956	-1	no_errors	ENST00000340398	ensembl	human	known	69_37n	nonsense	46	35.21	25	SNP	0.947	A
HCFC2	29915	genome.wustl.edu	37	12	104458465	104458465	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:104458465G>C	ENST00000229330.4	+	1	231	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	43					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGGGGGAAATGAGGGCATCGC	0.701																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	dbGAP											0													27.0	28.0	28.0					12																	104458465		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.127G>C	12.37:g.104458465G>C	ENSP00000229330:p.Glu43Gln		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E43Q	ENST00000229330.4	37	c.127	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354570	0.82243	.	.	ENSG00000111727	ENST00000229330	T	0.73681	-0.77	4.27	4.27	0.50696	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.88377	0.2999	10	0.42905	T	0.14	-12.9185	17.2279	0.86975	0.0:0.0:1.0:0.0	.	43	Q9Y5Z7	HCFC2_HUMAN	Q	43	ENSP00000229330:E43Q	ENSP00000229330:E43Q	E	+	1	0	HCFC2	102982595	1.000000	0.71417	0.985000	0.45067	0.954000	0.61252	6.952000	0.75989	2.353000	0.79882	0.491000	0.48974	GAG	HCFC2	-	NULL	ENSG00000111727		0.701	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	36	0.00	0	G	NM_013320		104458465	104458465	+1	no_errors	ENST00000229330	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	1.000	C
HDAC4	9759	genome.wustl.edu	37	2	240056337	240056337	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:240056337C>T	ENST00000345617.3	-	10	1772	c.981G>A	c.(979-981)acG>acA	p.T327T	HDAC4_ENST00000541256.1_Silent_p.T296T|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	327					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)		GCGCCAAACTCGTCTGGGGAC	0.537																																						dbGAP											0													110.0	104.0	106.0					2																	240056337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.981G>A	2.37:g.240056337C>T			Q9UND6	Missense_Mutation	SNP	NULL	p.R71Q	ENST00000345617.3	37	c.212	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223267	0.22457	.	.	ENSG00000068024	ENST00000445704	.	.	.	4.32	1.3	0.21679	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50474	-0.8824	4	.	.	.	.	9.5203	0.39131	0.0798:0.4472:0.4731:0.0	.	.	.	.	Q	71	.	.	R	-	2	0	HDAC4	239721274	0.441000	0.25626	0.954000	0.39281	0.610000	0.37248	0.016000	0.13377	0.124000	0.18369	-0.311000	0.09066	CGA	HDAC4	-	NULL	ENSG00000068024		0.537	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	75	0.00	0	C	NM_006037		240056337	240056337	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445704	ensembl	human	novel	69_37n	missense	28	39.13	18	SNP	0.978	T
HEPH	9843	genome.wustl.edu	37	X	65415033	65415033	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:65415033T>C	ENST00000343002.2	+	8	2127	c.1463T>C	c.(1462-1464)tTt>tCt	p.F488S	HEPH_ENST00000441993.2_Missense_Mutation_p.F491S|HEPH_ENST00000374727.3_Missense_Mutation_p.F491S|HEPH_ENST00000519389.1_Missense_Mutation_p.F542S|HEPH_ENST00000336279.5_Missense_Mutation_p.F221S|HEPH_ENST00000419594.1_Missense_Mutation_p.F491S			Q9BQS7	HEPH_HUMAN	hephaestin	488	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGGGGTCTTTTATGAGAAA	0.512																																						dbGAP											0													49.0	41.0	43.0					X																	65415033		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1463T>C	X.37:g.65415033T>C	ENSP00000343939:p.Phe488Ser		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.F542S	ENST00000343002.2	37	c.1625		X	.	.	.	.	.	.	.	.	.	.	T	9.364	1.068752	0.20147	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99422	-5.88;-5.88;-5.88;-5.88;-5.21;-5.88;-5.21	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.318650	0.34531	N	0.003884	D	0.96944	0.9002	N	0.20304	0.555	0.28486	N	0.914737	B;B;B	0.22604	0.072;0.029;0.044	B;B;B	0.29353	0.03;0.015;0.101	D	0.92802	0.6257	10	0.19147	T	0.46	.	6.2796	0.20999	0.0:0.1821:0.0:0.8179	.	542;491;488	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	S	542;491;221;491;491;488;488	ENSP00000430620:F542S;ENSP00000363859:F491S;ENSP00000337418:F221S;ENSP00000411687:F491S;ENSP00000413211:F491S;ENSP00000343939:F488S;ENSP00000398078:F488S	ENSP00000337418:F221S	F	+	2	0	HEPH	65331758	0.949000	0.32298	1.000000	0.80357	0.918000	0.54935	1.326000	0.33735	1.833000	0.53350	0.430000	0.28490	TTT	HEPH	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000089472		0.512	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	81	0.00	0	T	NM_138737		65415033	65415033	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	C
HERC2	8924	genome.wustl.edu	37	15	28375390	28375390	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:28375390G>A	ENST00000261609.7	-	83	12829	c.12721C>T	c.(12721-12723)Cgg>Tgg	p.R4241W		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGACCTGCCGAGGCCTTCGA	0.562																																						dbGAP											0													253.0	224.0	234.0					15																	28375390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12721C>T	15.37:g.28375390G>A	ENSP00000261609:p.Arg4241Trp			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R4241W	ENST00000261609.7	37	c.12721	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177607	0.78564	.	.	ENSG00000128731	ENST00000261609	D	0.85861	-2.04	5.03	4.11	0.48088	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.92110	0.7499	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92870	0.6313	10	0.87932	D	0	.	13.4538	0.61187	0.0761:0.0:0.9239:0.0	.	4241	O95714	HERC2_HUMAN	W	4241	ENSP00000261609:R4241W	ENSP00000261609:R4241W	R	-	1	2	HERC2	26048985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.272000	0.72575	1.102000	0.41551	0.561000	0.74099	CGG	HERC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000128731		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	106	0.00	0	G	NM_004667		28375390	28375390	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	33	49.23	32	SNP	1.000	A
HEY2	23493	genome.wustl.edu	37	6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											132.0	118.0	123.0					6																	126080335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.401C>T	6.37:g.126080335C>T	ENSP00000357348:p.Ala134Val			Missense_Mutation	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd,prints_Antifreeze_1	p.A134V	ENST00000368364.3	37	c.401	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731357	0.69189	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.54071	0.59;0.59	5.54	5.54	0.83059	Orange subgroup (1);Orange (2);	0.066854	0.64402	D	0.000019	T	0.49575	0.1565	L	0.38838	1.175	0.80722	D	1	D	0.60160	0.987	P	0.56788	0.806	T	0.30794	-0.9966	10	0.25751	T	0.34	-8.5007	19.4671	0.94946	0.0:1.0:0.0:0.0	.	134	Q9UBP5	HEY2_HUMAN	V	88;134	ENSP00000357349:A88V;ENSP00000357348:A134V	ENSP00000357348:A134V	A	+	2	0	HEY2	126122028	1.000000	0.71417	0.959000	0.39883	0.214000	0.24535	7.736000	0.84948	2.606000	0.88127	0.561000	0.74099	GCG	HEY2	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange	ENSG00000135547		0.587	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	96	0.00	0	C			126080335	126080335	+1	no_errors	ENST00000368364	ensembl	human	known	69_37n	missense	79	11.24	10	SNP	1.000	T
HIF1A	3091	genome.wustl.edu	37	14	62187188	62187188	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:62187188C>T	ENST00000337138.4	+	2	389	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	HIF1A_ENST00000323441.6_Missense_Mutation_p.H42Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_5'UTR|HIF1A_ENST00000539097.1_Missense_Mutation_p.H66Y|HIF1A_ENST00000394997.1_Missense_Mutation_p.H43Y|HIF1A_ENST00000557206.1_3'UTR	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	42	Interaction with TSGA10. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGAGCTTGCTCATCAGTTGCC	0.433																																						dbGAP											0													112.0	106.0	108.0					14																	62187188		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.124C>T	14.37:g.62187188C>T	ENSP00000338018:p.His42Tyr		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS	p.H66Y	ENST00000337138.4	37	c.196	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123928	0.77436	.	.	ENSG00000100644	ENST00000337138;ENST00000394997;ENST00000323441;ENST00000539097	T;T;T;T	0.51574	1.98;0.71;1.98;0.7	5.75	5.75	0.90469	Helix-loop-helix DNA-binding (3);	0.093667	0.85682	D	0.000000	T	0.54647	0.1871	M	0.78049	2.395	0.80722	D	1	B;B;B	0.24533	0.105;0.105;0.105	B;B;B	0.19391	0.025;0.025;0.025	T	0.54997	-0.8209	10	0.62326	D	0.03	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	43;42;42	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	Y	42;43;42;66	ENSP00000338018:H42Y;ENSP00000378446:H43Y;ENSP00000323326:H42Y;ENSP00000437955:H66Y	ENSP00000323326:H42Y	H	+	1	0	HIF1A	61256941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.732000	0.62029	2.717000	0.92951	0.585000	0.79938	CAT	HIF1A	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000100644		0.433	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	81	0.00	0	C	NM_001530		62187188	62187188	+1	no_errors	ENST00000539097	ensembl	human	known	69_37n	missense	51	37.80	31	SNP	1.000	T
HHIPL1	84439	genome.wustl.edu	37	14	100118811	100118811	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:100118811C>G	ENST00000330710.5	+	2	604	c.506C>G	c.(505-507)tCa>tGa	p.S169*	HHIPL1_ENST00000357223.2_Nonsense_Mutation_p.S169*	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	169					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AACCTCAACTCAAACCTGGGC	0.632																																						dbGAP											0													100.0	87.0	91.0					14																	100118811		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.506C>G	14.37:g.100118811C>G	ENSP00000330601:p.Ser169*		A2RUF8|B2RN09|Q6UXX2	Nonsense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.S169*	ENST00000330710.5	37	c.506	CCDS45162.1	14	.	.	.	.	.	.	.	.	.	.	c	15.93	2.977392	0.53720	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	.	.	.	4.98	0.47	0.16747	.	0.985044	0.08268	N	0.971926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.8571	0.08981	0.2928:0.2675:0.0:0.4397	.	.	.	.	X	169	.	ENSP00000330601:S169X	S	+	2	0	HHIPL1	99188564	0.000000	0.05858	0.236000	0.24074	0.132000	0.20833	1.141000	0.31528	0.158000	0.19367	-0.768000	0.03414	TCA	HHIPL1	-	pfam_Folate_rcpt-like	ENSG00000182218		0.632	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	83	0.00	0	C	XM_041566		100118811	100118811	+1	no_errors	ENST00000330710	ensembl	human	known	69_37n	nonsense	29	27.50	11	SNP	0.047	G
HIPK2	28996	genome.wustl.edu	37	7	139281600	139281600	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:139281600G>A	ENST00000406875.3	-	12	2674	c.2580C>T	c.(2578-2580)ggC>ggT	p.G860G	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Silent_p.G833G	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	860	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with TP53 and TP73.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGCCACGTCGCCCCACCCAC	0.647																																						dbGAP											0													53.0	61.0	59.0					7																	139281600		2182	4285	6467	-	-	-	SO:0001819	synonymous_variant	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2580C>T	7.37:g.139281600G>A			Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G860	ENST00000406875.3	37	c.2580		7																																																																																			HIPK2	-	NULL	ENSG00000064393		0.647	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	57	0.00	0	G	NM_022740		139281600	139281600	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.166	A
HIPK3	10114	genome.wustl.edu	37	11	33308561	33308561	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:33308561G>A	ENST00000303296.4	+	2	906	c.601G>A	c.(601-603)Gat>Aat	p.D201N	HIPK3_ENST00000379016.3_Missense_Mutation_p.D201N|HIPK3_ENST00000525975.1_Missense_Mutation_p.D201N|HIPK3_ENST00000456517.1_Missense_Mutation_p.D201N	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CGAAGTCCTTGATTTTCTTGG	0.383																																						dbGAP											0													68.0	64.0	65.0					11																	33308561		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.601G>A	11.37:g.33308561G>A	ENSP00000304226:p.Asp201Asn		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D201N	ENST00000303296.4	37	c.601	CCDS7884.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834542	0.91036	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.18425	0.0442	N	0.25031	0.7	0.80722	D	1	B;P	0.38535	0.333;0.635	B;B	0.35899	0.135;0.213	T	0.02789	-1.1110	10	0.87932	D	0	.	19.7253	0.96161	0.0:0.0:1.0:0.0	.	201;201	Q9H422-2;Q9H422	.;HIPK3_HUMAN	N	201	ENSP00000431710:D201N;ENSP00000304226:D201N;ENSP00000368301:D201N;ENSP00000398241:D201N	ENSP00000304226:D201N	D	+	1	0	HIPK3	33265137	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.673000	0.90976	0.585000	0.79938	GAT	HIPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000110422		0.383	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	34	0.00	0	G	NM_005734		33308561	33308561	+1	no_errors	ENST00000303296	ensembl	human	known	69_37n	missense	12	60.00	18	SNP	1.000	A
HIVEP1	3096	genome.wustl.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383																																						dbGAP											0													84.0	91.0	89.0					6																	12161698		1948	4148	6096	-	-	-	SO:0001587	stop_gained	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6514C>T	6.37:g.12161698C>T	ENSP00000368698:p.Arg2172*		B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2172*	ENST00000379388.2	37	c.6514	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691961	0.88735	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	.	.	.	5.77	2.63	0.31362	.	0.000000	0.31392	N	0.007736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1929	14.4025	0.67056	0.576:0.424:0.0:0.0	.	.	.	.	X	2172;99;37;154	.	ENSP00000368698:R2172X	R	+	1	2	HIVEP1	12269684	0.999000	0.42202	0.995000	0.50966	0.717000	0.41224	0.624000	0.24462	0.631000	0.30412	0.655000	0.94253	CGA	HIVEP1	-	NULL	ENSG00000095951		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	29	0.00	0	C	NM_002114		12161698	12161698	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	nonsense	32	30.43	14	SNP	0.995	T
HIST1H3B	8358	genome.wustl.edu	37	6	26031967	26031967	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:26031967T>C	ENST00000244661.2	-	1	321	c.322A>G	c.(322-324)Aca>Gca	p.T108A		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	108					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CAAAGGTTTGTGTCCTCAAAG	0.532																																						dbGAP											0													77.0	77.0	77.0					6																	26031967		2203	4300	6503	-	-	-	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.322A>G	6.37:g.26031967T>C	ENSP00000244661:p.Thr108Ala		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.T108A	ENST00000244661.2	37	c.322	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	t	14.86	2.662929	0.47572	.	.	ENSG00000124693	ENST00000244661	T	0.44881	0.91	5.07	5.07	0.68467	.	.	.	.	.	T	0.49406	0.1555	.	.	.	0.42471	D	0.992827	.	.	.	.	.	.	T	0.56475	-0.7973	6	0.87932	D	0	.	14.2932	0.66295	0.0:0.0:0.0:1.0	.	.	.	.	A	108	ENSP00000244661:T108A	ENSP00000244661:T108A	T	-	1	0	HIST1H3B	26139946	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.705000	0.84606	2.013000	0.59113	0.459000	0.35465	ACA	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.532	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	80	0.00	0	T	NM_003537		26031967	26031967	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	missense	48	22.22	14	SNP	1.000	C
HKR1	284459	genome.wustl.edu	37	19	37853022	37853022	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:37853022G>C	ENST00000324411.4	+	6	594	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591417.1_Missense_Mutation_p.R88T|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000592168.1_3'UTR|HKR1_ENST00000586897.1_Missense_Mutation_p.R88T|HKR1_ENST00000541583.2_Missense_Mutation_p.E48Q|HKR1_ENST00000392153.3_Missense_Mutation_p.E90Q|HKR1_ENST00000589392.1_Missense_Mutation_p.E91Q	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	109					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCGAAGCCAGAAATTCAACT	0.448																																						dbGAP											0													90.0	90.0	90.0					19																	37853022		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.325G>C	19.37:g.37853022G>C	ENSP00000315505:p.Glu109Gln		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	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.E109Q	ENST00000324411.4	37	c.325	CCDS12502.1	19	.	.	.	.	.	.	.	.	.	.	G	5.244	0.230561	0.09969	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.08720	3.27;3.23;3.06	2.71	1.66	0.24008	.	.	.	.	.	T	0.14098	0.0341	L	0.39245	1.2	0.09310	N	1	P;D;P;P	0.59357	0.745;0.985;0.839;0.745	B;P;B;B	0.61397	0.329;0.888;0.329;0.329	T	0.15350	-1.0440	9	0.41790	T	0.15	-6.7968	5.733	0.18051	0.1508:0.0:0.8492:0.0	.	48;90;109;91	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	Q	48;90;145;109;48	ENSP00000375994:E90Q;ENSP00000315505:E109Q;ENSP00000438261:E48Q	ENSP00000315505:E109Q	E	+	1	0	HKR1	42544862	0.283000	0.24277	0.050000	0.19076	0.272000	0.26649	0.573000	0.23699	0.700000	0.31782	0.650000	0.86243	GAA	HKR1	-	NULL	ENSG00000181666		0.448	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1	61	0.00	0	G	NM_181786		37853022	37853022	+1	no_errors	ENST00000324411	ensembl	human	known	69_37n	missense	44	41.33	31	SNP	0.110	C
HLA-A	3105	genome.wustl.edu	37	6	29911954	29911954	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:29911954G>T	ENST00000396634.1	+	6	1016	c.675G>T	c.(673-675)ctG>ctT	p.L225L	HLA-A_ENST00000376809.5_Silent_p.L225L|HLA-A_ENST00000376806.5_Silent_p.L225L|HLA-A_ENST00000376802.2_Silent_p.L225L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.L225L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						AGGCCACCCTGAGGTGCTGGG	0.602									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											75.0	98.0	90.0					6																	29911954		1508	2707	4215	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.675G>T	6.37:g.29911954G>T			O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L225	ENST00000396634.1	37	c.675	CCDS34373.1	6																																																																																			HLA-A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000206503		0.602	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	44	0.00	0	G	NM_002116		29911954	29911954	+1	no_errors	ENST00000376806	ensembl	human	known	69_37n	silent	10	67.74	21	SNP	1.000	T
HMGB4	127540	genome.wustl.edu	37	1	34330027	34330027	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:34330027G>A	ENST00000522796.1	+	4	2140	c.235G>A	c.(235-237)Gtt>Att	p.V79I	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.V79I|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	79						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATGAATTATGTTGGCAAGAG	0.483																																						dbGAP											0													131.0	149.0	143.0					1																	34330027		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.235G>A	1.37:g.34330027G>A	ENSP00000430919:p.Val79Ile		B2R4X7|Q0QWA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V79I	ENST00000522796.1	37	c.235	CCDS30668.1	1	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.248262	0.01469	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.16897	2.31;2.31	5.58	-7.05	0.01573	.	0.194405	0.31648	N	0.007284	T	0.03608	0.0103	N	0.04805	-0.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.02654	T	1	.	2.4591	0.04537	0.385:0.2953:0.2196:0.1001	.	79	B2R4X7	.	I	79	ENSP00000429214:V79I;ENSP00000430919:V79I	ENSP00000429214:V79I	V	+	1	0	HMGB4	34102614	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	0.143000	0.16115	-1.827000	0.01204	-0.192000	0.12808	GTT	HMGB4	-	superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000176256		0.483	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMGB4	HGNC	protein_coding	OTTHUMT00000375773.1	74	0.00	0	G	NM_145205		34330027	34330027	+1	no_errors	ENST00000519684	ensembl	human	known	69_37n	missense	53	26.39	19	SNP	0.000	A
HMCN1	83872	genome.wustl.edu	37	1	186147874	186147874	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:186147874G>A	ENST00000271588.4	+	104	16499	c.16270G>A	c.(16270-16272)Gag>Aag	p.E5424K	HMCN1_ENST00000367492.2_Intron|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5424					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E5424Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGGCTCTGAGGCAAGCCA	0.438																																						dbGAP											1	Substitution - Missense(1)	autonomic_ganglia(1)											100.0	96.0	97.0					1																	186147874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16270G>A	1.37:g.186147874G>A	ENSP00000271588:p.Glu5424Lys		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E5424K	ENST00000271588.4	37	c.16270	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067472	0.36470	.	.	ENSG00000143341	ENST00000271588	D	0.87179	-2.22	5.56	3.6	0.41247	Growth factor, receptor (1);	0.289077	0.39407	N	0.001363	T	0.77987	0.4213	L	0.35487	1.065	0.80722	D	1	B	0.16166	0.016	B	0.14578	0.011	T	0.67488	-0.5658	10	0.21540	T	0.41	.	8.8067	0.34943	0.0836:0.1485:0.7679:0.0	.	5424	Q96RW7	HMCN1_HUMAN	K	5424	ENSP00000271588:E5424K	ENSP00000271588:E5424K	E	+	1	0	HMCN1	184414497	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.088000	0.57678	0.740000	0.32651	0.655000	0.94253	GAG	HMCN1	-	superfamily_Growth_fac_rcpt	ENSG00000143341		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	71	0.00	0	G	NM_031935		186147874	186147874	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	53	40.45	36	SNP	1.000	A
HNF4G	3174	genome.wustl.edu	37	8	76456180	76456180	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:76456180C>T	ENST00000354370.1	+	3	382	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	HNF4G_ENST00000396423.2_Missense_Mutation_p.R75C			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	38					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R75C(1)|p.R38C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTCTTCAGACGCAGCATTCG	0.448																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											173.0	147.0	156.0					8																	76456180		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.112C>T	8.37:g.76456180C>T	ENSP00000346339:p.Arg38Cys		Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.R75C	ENST00000354370.1	37	c.223		8	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232227	0.79688	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.99005	-5.32;-5.32	4.86	3.94	0.45596	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.050755	0.85682	D	0.000000	D	0.99619	0.9861	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97154	0.9833	10	0.87932	D	0	.	12.5929	0.56453	0.292:0.708:0.0:0.0	.	75;38	F1D8Q4;Q14541	.;HNF4G_HUMAN	C	38;75	ENSP00000346339:R38C;ENSP00000379701:R75C	ENSP00000346339:R38C	R	+	1	0	HNF4G	76618735	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.067000	0.41461	2.526000	0.85167	0.484000	0.47621	CGC	HNF4G	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000164749		0.448	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	HNF4G	HGNC	protein_coding	OTTHUMT00000313914.2	116	0.00	0	C	NM_004133		76456180	76456180	+1	no_errors	ENST00000396423	ensembl	human	known	69_37n	missense	41	56.84	54	SNP	1.000	T
HNRNPC	3183	genome.wustl.edu	37	14	21680074	21680074	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:21680074C>T	ENST00000320084.7	-	6	810	c.571G>A	c.(571-573)Gat>Aat	p.D191N	HNRNPC_ENST00000556142.1_Missense_Mutation_p.D191N|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D178N|HNRNPC_ENST00000430246.2_Missense_Mutation_p.D178N|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D178N|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D191N|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D178N|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D191N|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D178N|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D191N|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D178N|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D178N|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D178N|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D191N|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D191N|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D111N	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	191	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TGAAGGTCATCTCCTTTCACT	0.373																																					NSCLC(108;607 2244 12726 38757)	dbGAP											0													94.0	94.0	94.0					14																	21680074		1904	4133	6037	-	-	-	SO:0001583	missense	0				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.571G>A	14.37:g.21680074C>T	ENSP00000319690:p.Asp191Asn		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.D191N	ENST00000320084.7	37	c.571	CCDS41915.1	14	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393830	0.62066	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18960	2.59;2.73;2.62;2.62;2.68;2.73;2.62;2.59;2.6;2.73;2.18;2.68;2.73;2.62;2.62;2.73;2.45;2.2;2.69	5.34	5.34	0.76211	.	0.000000	0.64402	U	0.000005	T	0.45054	0.1323	L	0.61218	1.895	0.50039	D	0.999846	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.996;0.998;0.995	D;P;D;D;D;D	0.71414	0.973;0.894;0.957;0.936;0.94;0.928	T	0.26258	-1.0108	10	0.54805	T	0.06	.	18.1669	0.89731	0.0:1.0:0.0:0.0	.	86;178;111;178;191;178	B4DQQ2;B4DY08;P07910-3;G3V4C1;P07910;P07910-2	.;.;.;.;HNRPC_HUMAN;.	N	178;191;178;178;191;191;178;178;178;191;111;191;191;178;86;178;191;99;191;75;178	ENSP00000338095:D178N;ENSP00000319690:D191N;ENSP00000404559:D178N;ENSP00000450725:D178N;ENSP00000451187:D191N;ENSP00000451291:D191N;ENSP00000442816:D178N;ENSP00000450548:D178N;ENSP00000451708:D178N;ENSP00000450790:D191N;ENSP00000451652:D111N;ENSP00000452214:D191N;ENSP00000452276:D191N;ENSP00000450544:D178N;ENSP00000451176:D178N;ENSP00000404848:D191N;ENSP00000450601:D99N;ENSP00000452545:D75N;ENSP00000452021:D178N	ENSP00000216296:D86N	D	-	1	0	HNRNPC	20749914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.243000	0.65395	2.664000	0.90586	0.655000	0.94253	GAT	HNRNPC	-	superfamily_Regulat_G_prot_signal_superfam,pirsf_hnRNP_C_Raly	ENSG00000092199		0.373	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	108	0.00	0	C			21680074	21680074	-1	no_errors	ENST00000320084	ensembl	human	known	69_37n	missense	101	30.34	44	SNP	1.000	T
HOOK2	29911	genome.wustl.edu	37	19	12881762	12881762	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:12881762C>T	ENST00000397668.3	-	10	959	c.886G>A	c.(886-888)Gag>Aag	p.E296K	HOOK2_ENST00000264827.5_Missense_Mutation_p.E296K|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	296	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCATCCATCTCATCCTTCAGG	0.642																																						dbGAP											0													43.0	49.0	47.0					19																	12881762		2034	4191	6225	-	-	-	SO:0001583	missense	0			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.886G>A	19.37:g.12881762C>T	ENSP00000380785:p.Glu296Lys		O60562	Missense_Mutation	SNP	pfam_HOOK,superfamily_UBA-like	p.E296K	ENST00000397668.3	37	c.886	CCDS42508.1	19	.	.	.	.	.	.	.	.	.	.	c	33	5.230718	0.95207	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.34859	1.34;1.34	4.8	4.8	0.61643	.	0.158118	0.40818	N	0.001004	T	0.62368	0.2422	M	0.82132	2.575	0.58432	D	0.999993	D;D	0.71674	0.997;0.998	D;D	0.69824	0.942;0.966	T	0.69135	-0.5225	10	0.87932	D	0	-27.5971	16.6404	0.85070	0.0:1.0:0.0:0.0	.	296;296	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	K	296	ENSP00000380785:E296K;ENSP00000264827:E296K	ENSP00000264827:E296K	E	-	1	0	HOOK2	12742762	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.400000	0.79949	2.224000	0.72417	0.454000	0.30748	GAG	HOOK2	-	pfam_HOOK	ENSG00000095066		0.642	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	48	0.00	0	C	NM_013312		12881762	12881762	-1	no_errors	ENST00000397668	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	T
HOXA9	3205	genome.wustl.edu	37	7	27203249	27203249	+	Silent	SNP	G	G	A	rs377402962		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:27203249G>A	ENST00000343483.6	-	2	864	c.792C>T	c.(790-792)atC>atT	p.I264I	RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Silent_p.I104I	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	264					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GGTCTTTGTTGATTTTCTTCA	0.498			T	"""NUP98, MSI2"""	AML*																																	dbGAP		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													219.0	221.0	220.0					7																	27203249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.792C>T	7.37:g.27203249G>A			O43369|O43429|Q99820	Silent	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.I264	ENST00000343483.6	37	c.792	CCDS5409.1	7																																																																																			HOXA9	-	superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain	ENSG00000078399		0.498	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2	262	0.00	0	G			27203249	27203249	-1	no_errors	ENST00000343483	ensembl	human	known	69_37n	silent	160	33.61	81	SNP	1.000	A
HPCAL4	51440	genome.wustl.edu	37	1	40149705	40149705	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:40149705G>A	ENST00000372844.3	-	3	673	c.282C>T	c.(280-282)cgC>cgT	p.R94R		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	94	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGAAGCTGCCGCGGGAGGTGA	0.632																																						dbGAP											0													52.0	52.0	52.0					1																	40149705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.282C>T	1.37:g.40149705G>A			B2R5U2|D3DPU1|Q5TG97|Q8N611	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.R94	ENST00000372844.3	37	c.282	CCDS441.1	1																																																																																			HPCAL4	-	pfscan_EF_HAND_2,prints_Recoverin	ENSG00000116983		0.632	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	49	0.00	0	G	NM_016257		40149705	40149705	-1	no_errors	ENST00000372844	ensembl	human	known	69_37n	silent	21	46.15	18	SNP	0.991	A
HRH4	59340	genome.wustl.edu	37	18	22057345	22057345	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:22057345C>T	ENST00000256906.4	+	3	1092	c.992C>T	c.(991-993)tCa>tTa	p.S331L	HRH4_ENST00000426880.2_Missense_Mutation_p.S243L	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	331					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TTTTATTCCTCAGCAACAGGT	0.423																																						dbGAP											0													256.0	257.0	257.0					18																	22057345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.992C>T	18.37:g.22057345C>T	ENSP00000256906:p.Ser331Leu		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H4_recept,prints_7TM_GPCR_Rhodpsn	p.S331L	ENST00000256906.4	37	c.992	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114283	0.20795	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.71934	-0.61;-0.61	5.17	-4.16	0.03869	GPCR, rhodopsin-like superfamily (1);	1.959920	0.02480	N	0.088391	T	0.46541	0.1398	N	0.12569	0.235	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.17979	0.003;0.02	T	0.18335	-1.0340	10	0.30078	T	0.28	6.495	1.2092	0.01901	0.41:0.1983:0.2287:0.1629	.	243;331	B2KJ48;Q9H3N8	.;HRH4_HUMAN	L	331;243	ENSP00000256906:S331L;ENSP00000402526:S243L	ENSP00000256906:S331L	S	+	2	0	HRH4	20311343	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.145000	0.10265	-0.380000	0.07894	0.650000	0.86243	TCA	HRH4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000134489		0.423	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	264	0.00	0	C			22057345	22057345	+1	no_errors	ENST00000256906	ensembl	human	known	69_37n	missense	93	53.73	108	SNP	0.000	T
HS6ST1	9394	genome.wustl.edu	37	2	129075905	129075905	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:129075905G>A	ENST00000259241.6	-	1	246	c.233C>T	c.(232-234)tCg>tTg	p.S78L	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	78					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAAGCGCAGCGAGCGCTCCAG	0.677																																						dbGAP											0													17.0	25.0	22.0					2																	129075905		1944	4152	6096	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.233C>T	2.37:g.129075905G>A	ENSP00000259241:p.Ser78Leu		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.S78L	ENST00000259241.6	37	c.233	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	g	12.61	1.988627	0.35131	.	.	ENSG00000136720	ENST00000259241	T	0.37584	1.19	3.16	2.22	0.28083	.	0.460015	0.22349	U	0.061221	T	0.18425	0.0442	N	0.14661	0.345	0.43719	D	0.996197	B	0.14805	0.011	B	0.08055	0.003	T	0.06427	-1.0827	9	.	.	.	.	8.7725	0.34742	0.0:0.0:0.7722:0.2278	.	78	O60243	H6ST1_HUMAN	L	78	ENSP00000259241:S78L	.	S	-	2	0	HS6ST1	128792375	0.001000	0.12720	1.000000	0.80357	0.981000	0.71138	0.627000	0.24506	0.470000	0.27294	0.313000	0.20887	TCG	HS6ST1	-	NULL	ENSG00000136720		0.677	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	32	0.00	0	G	NM_004807		129075905	129075905	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	1.000	A
HSDL2	84263	genome.wustl.edu	37	9	115232817	115232817	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:115232817G>C	ENST00000398805.3	+	11	1477	c.1250G>C	c.(1249-1251)aGa>aCa	p.R417T	HSDL2_ENST00000398803.1_Missense_Mutation_p.R344T|HSDL2_ENST00000262542.7_Missense_Mutation_p.R297T|HSDL2_ENST00000539114.1_Missense_Mutation_p.R212T	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	417						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGAATGCCAGACTGTGAAGG	0.328																																						dbGAP											0													63.0	57.0	59.0					9																	115232817		1832	4075	5907	-	-	-	SO:0001583	missense	0			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.1250G>C	9.37:g.115232817G>C	ENSP00000381785:p.Arg417Thr		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.R417T	ENST00000398805.3	37	c.1250	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162440	0.57368	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.84146	-1.81;1.78;1.81;1.79	5.65	-2.8	0.05823	SCP2 sterol-binding domain (1);	0.366820	0.30723	N	0.009012	T	0.74913	0.3779	L	0.29908	0.895	0.30194	N	0.799241	B;B;B	0.32717	0.277;0.361;0.381	B;B;B	0.33042	0.157;0.118;0.103	T	0.66352	-0.5945	10	0.87932	D	0	.	13.1119	0.59278	0.4725:0.0:0.5275:0.0	.	344;344;417	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	T	417;344;297;212	ENSP00000381785:R417T;ENSP00000381783:R344T;ENSP00000262542:R297T;ENSP00000442278:R212T	ENSP00000262542:R297T	R	+	2	0	HSDL2	114272638	0.986000	0.35501	0.087000	0.20705	0.926000	0.56050	0.235000	0.17948	-0.973000	0.03555	-0.262000	0.10625	AGA	HSDL2	-	superfamily_SCP2_sterol-bd_dom	ENSG00000119471		0.328	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	59	0.00	0	G	NM_032303		115232817	115232817	+1	no_errors	ENST00000398805	ensembl	human	known	69_37n	missense	43	42.67	32	SNP	0.983	C
HTT	3064	genome.wustl.edu	37	4	3205874	3205874	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:3205874T>C	ENST00000355072.5	+	42	5862	c.5717T>C	c.(5716-5718)gTc>gCc	p.V1906A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1906					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTGATTATGTCGTAAGTTTG	0.488																																						dbGAP											0													119.0	118.0	118.0					4																	3205874		1908	4121	6029	-	-	-	SO:0001630	splice_region_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5718+1T>C	4.37:g.3205874T>C			Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.V1906A	ENST00000355072.5	37	c.5717	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684444	0.88639	.	.	ENSG00000197386	ENST00000355072	T	0.06371	3.31	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	M	0.77616	2.38	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.00986	-1.1490	10	0.87932	D	0	.	15.8912	0.79299	0.0:0.0:0.0:1.0	.	1906	P42858	HD_HUMAN	A	1906	ENSP00000347184:V1906A	ENSP00000347184:V1906A	V	+	2	0	HTT	3175672	1.000000	0.71417	0.909000	0.35828	0.771000	0.43674	7.453000	0.80700	2.158000	0.67659	0.482000	0.46254	GTC	HTT	-	NULL	ENSG00000197386		0.488	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	118	0.83	1	T	NM_002111	Missense_Mutation	3205874	3205874	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	C
HYDIN	54768	genome.wustl.edu	37	16	70884495	70884495	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:70884495G>A	ENST00000393567.2	-	74	12657	c.12507C>T	c.(12505-12507)tgC>tgT	p.C4169C	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4169					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.C4168C(1)|p.C4120C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCCACATTGCAGATCAAAT	0.443																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											58.0	51.0	53.0					16																	70884495		1845	4095	5940	-	-	-	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12507C>T	16.37:g.70884495G>A			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.C4168	ENST00000393567.2	37	c.12504	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	104	0.00	0	G			70884495	70884495	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	silent	38	47.22	34	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	71026093	71026093	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:71026093T>G	ENST00000393567.2	-	24	3815	c.3665A>C	c.(3664-3666)aAg>aCg	p.K1222T	HYDIN_ENST00000448089.2_Missense_Mutation_p.K1174T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1222					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTGTAGGGCTTCTTCGGCAA	0.537																																						dbGAP											0													76.0	75.0	75.0					16																	71026093		1909	4116	6025	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3665A>C	16.37:g.71026093T>G	ENSP00000377197:p.Lys1222Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.K1222T	ENST00000393567.2	37	c.3665	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344657	0.61073	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.04758	5.52;3.56	4.93	4.93	0.64822	.	.	.	.	.	T	0.09113	0.0225	L	0.36672	1.1	0.80722	D	1	D	0.57257	0.979	P	0.56563	0.801	T	0.40251	-0.9573	9	0.24483	T	0.36	.	11.2281	0.48897	0.0:0.0:0.0:1.0	.	1222	F8WD23	.	T	1222;1222;1174	ENSP00000377197:K1222T;ENSP00000398544:K1174T	ENSP00000313052:K1222T	K	-	2	0	HYDIN	69583594	0.796000	0.28864	0.640000	0.29408	0.086000	0.17979	1.917000	0.39996	1.979000	0.57680	0.418000	0.28097	AAG	HYDIN	-	NULL	ENSG00000157423		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	155	0.00	0	T			71026093	71026093	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	18	65.38	34	SNP	0.950	G
IARS	3376	genome.wustl.edu	37	9	95025286	95025286	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:95025286G>A	ENST00000375643.3	-	17	2018	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	IARS_ENST00000443024.2_Silent_p.F584F|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.F474F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	584					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTACGTTCTTGAAAGGCGGTT	0.453																																						dbGAP											0													73.0	61.0	65.0					9																	95025286		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1752C>T	9.37:g.95025286G>A			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.F584	ENST00000375643.3	37	c.1752	CCDS6694.1	9																																																																																			IARS	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt	ENSG00000196305		0.453	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	83	0.00	0	G	NM_002161		95025286	95025286	-1	no_errors	ENST00000375643	ensembl	human	known	69_37n	silent	52	34.18	27	SNP	1.000	A
IARS2	55699	genome.wustl.edu	37	1	220316389	220316389	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:220316389A>G	ENST00000302637.5	+	21	2768	c.2664A>G	c.(2662-2664)tcA>tcG	p.S888S	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Silent_p.S816S	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	888					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGCGAGACTCATTTCTTGGAA	0.453																																						dbGAP											0													155.0	146.0	149.0					1																	220316389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2664A>G	1.37:g.220316389A>G			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.S888	ENST00000302637.5	37	c.2664	CCDS1523.1	1																																																																																			IARS2	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000067704		0.453	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		117	0.00	0	A	NM_018060		220316389	220316389	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	silent	178	29.08	73	SNP	0.023	G
ICK	22858	genome.wustl.edu	37	6	52883203	52883203	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:52883203G>C	ENST00000350082.5	-	7	934	c.588C>G	c.(586-588)ctC>ctG	p.L196L	ICK_ENST00000356971.3_Silent_p.L196L	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					AGAGTGGCCTGAGGGTGTAAA	0.502																																						dbGAP											0													145.0	142.0	143.0					6																	52883203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.588C>G	6.37:g.52883203G>C			A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L196	ENST00000350082.5	37	c.588	CCDS4949.1	6																																																																																			ICK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000112144		0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	82	0.00	0	G	NM_016513		52883203	52883203	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	silent	22	74.71	65	SNP	0.892	C
IFFO1	25900	genome.wustl.edu	37	12	6658963	6658963	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:6658963C>T	ENST00000396840.2	-	4	1071	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	IFFO1_ENST00000336604.4_Missense_Mutation_p.A344T|IFFO1_ENST00000465801.1_Missense_Mutation_p.A37T|IFFO1_ENST00000356896.4_Missense_Mutation_p.A344T|IFFO1_ENST00000436152.2_Missense_Mutation_p.A37T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	344						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGCTGCTGAGCCACATCGCAG	0.602																																						dbGAP											0													137.0	90.0	106.0					12																	6658963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1030G>A	12.37:g.6658963C>T	ENSP00000380052:p.Ala344Thr		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Nonsense_Mutation	SNP	NULL	p.W75*	ENST00000396840.2	37	c.225		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545876|4.545876	0.86022|0.86022	.|.	.|.	ENSG00000010295|ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896|ENST00000416019	D;D;D;D;D|.	0.94497|.	-3.44;-3.23;-2.57;-2.6;-2.63|.	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.159764|.	0.41001|.	D|.	0.000980|.	T|.	0.72358|.	0.3450|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.998;0.998;0.998|.	T|.	0.73704|.	-0.3899|.	10|.	0.56958|.	D|.	0.05|.	-1.9377|-1.9377	16.1817|16.1817	0.81909|0.81909	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;344;344;344|.	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5|.	.;.;IFFO1_HUMAN;.|.	T|X	37;37;344;344;344|75	ENSP00000390721:A37T;ENSP00000436261:A37T;ENSP00000337593:A344T;ENSP00000380052:A344T;ENSP00000349364:A344T|.	ENSP00000337593:A344T|.	A|W	-|-	1|3	0|0	IFFO1|IFFO1	6529224|6529224	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.728000|0.728000	0.41692|0.41692	7.320000|7.320000	0.79064|0.79064	2.049000|2.049000	0.60858|0.60858	0.491000|0.491000	0.48974|0.48974	GCT|TGG	IFFO1	-	NULL	ENSG00000010295		0.602	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	84	0.00	0	C	NM_080730		6658963	6658963	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000416019	ensembl	human	novel	69_37n	nonsense	30	44.44	24	SNP	1.000	T
IGKV6-21	28906	genome.wustl.edu	37	2	89459508	89459508	+	RNA	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:89459508C>G	ENST00000390256.2	-	0	132									immunoglobulin kappa variable 6-21 (non-functional)																		GAGACTGAGTCAGCACAATTT	0.443																																						dbGAP											0													11.0	11.0	11.0					2																	89459508		1754	3989	5743	-	-	-			0			X63399		2p11.2	2012-02-10	2008-09-10		ENSG00000211611	ENSG00000211611		"""Immunoglobulins / IGK locus"""	5836	other	immunoglobulin gene			"""immunoglobulin kappa variable 6-21"""				Standard	NG_000834		Approved	IGKV621, A26			OTTHUMG00000151654		2.37:g.89459508C>G				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L23	ENST00000390256.2	37	c.69		2																																																																																			IGKV6-21	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211611		0.443	IGKV6-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV6-21	HGNC	IG_V_gene	OTTHUMT00000323403.1	60	0.00	0	C	NG_000834		89459508	89459508	-1	no_stop_codon	ENST00000390256	ensembl	human	known	69_37n	silent	86	21.10	23	SNP	0.991	G
IL1RAPL2	26280	genome.wustl.edu	37	X	104440363	104440363	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:104440363G>C	ENST00000372582.1	+	3	1045	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E97Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	97	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAGCAAAGAGGAAGATTC	0.448																																						dbGAP											0													105.0	87.0	93.0					X																	104440363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.289G>C	X.37:g.104440363G>C	ENSP00000361663:p.Glu97Gln		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.E97Q	ENST00000372582.1	37	c.289	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860466	0.71834	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.78246	-1.16;-1.16	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110963	0.39341	N	0.001392	T	0.75243	0.3823	L	0.40543	1.245	0.80722	D	1	P	0.35468	0.503	B	0.41723	0.365	T	0.72918	-0.4146	10	0.30854	T	0.27	.	17.2402	0.87011	0.0:0.0:1.0:0.0	.	97	Q9NP60	IRPL2_HUMAN	Q	97	ENSP00000361663:E97Q;ENSP00000344976:E97Q	ENSP00000344976:E97Q	E	+	1	0	IL1RAPL2	104327019	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.541000	0.82084	2.282000	0.76494	0.600000	0.82982	GAG	IL1RAPL2	-	smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II	ENSG00000189108		0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	77	0.00	0	G	NM_017416		104440363	104440363	+1	no_errors	ENST00000344799	ensembl	human	known	69_37n	missense	32	47.54	29	SNP	1.000	C
IL34	146433	genome.wustl.edu	37	16	70688451	70688451	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:70688451C>G	ENST00000288098.2	+	2	422	c.39C>G	c.(37-39)atC>atG	p.I13M	IL34_ENST00000566361.1_5'UTR|IL34_ENST00000569641.1_Intron|IL34_ENST00000429149.2_Missense_Mutation_p.I13M	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	13					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						ATCTTGGGATCTTCCTTGGCG	0.567											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													395.0	260.0	306.0					16																	70688451		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.39C>G	16.37:g.70688451C>G	ENSP00000288098:p.Ile13Met	1124	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	prints_Interleukin-34	p.I13M	ENST00000288098.2	37	c.39	CCDS10895.1	16	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507674	0.27036	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.42900	0.96;0.96	4.89	3.83	0.44106	.	0.513432	0.18773	N	0.131544	T	0.41003	0.1140	M	0.72118	2.19	0.09310	N	1	P;P	0.43701	0.815;0.815	B;B	0.40444	0.329;0.329	T	0.46665	-0.9175	10	0.72032	D	0.01	-16.8525	7.8871	0.29656	0.0:0.8401:0.0:0.1599	.	13;13	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	M	13	ENSP00000397863:I13M;ENSP00000288098:I13M	ENSP00000288098:I13M	I	+	3	3	IL34	69245952	0.995000	0.38212	1.000000	0.80357	0.034000	0.12701	1.304000	0.33482	2.263000	0.75096	0.462000	0.41574	ATC	IL34	-	NULL	ENSG00000157368		0.567	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	285	0.00	0	C	NM_152456		70688451	70688451	+1	no_errors	ENST00000288098	ensembl	human	known	69_37n	missense	76	61.22	120	SNP	0.304	G
INADL	10207	genome.wustl.edu	37	1	62330274	62330274	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:62330274C>T	ENST00000371158.2	+	20	2918	c.2804C>T	c.(2803-2805)gCa>gTa	p.A935V	INADL_ENST00000316485.6_Missense_Mutation_p.A935V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	935					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCCCAGGAGGCACAGCCGTAT	0.483																																						dbGAP											0													80.0	85.0	83.0					1																	62330274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2804C>T	1.37:g.62330274C>T	ENSP00000360200:p.Ala935Val		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.A935V	ENST00000371158.2	37	c.2804	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660726	0.14645	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.87;2.71	4.38	-5.68	0.02436	.	1.070100	0.07253	N	0.866187	T	0.08626	0.0214	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.38520	-0.9657	10	0.27785	T	0.31	.	5.2657	0.15597	0.2284:0.265:0.0:0.5066	.	935;935;935	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	V	935	ENSP00000360200:A935V;ENSP00000326199:A935V	ENSP00000255202:A935V	A	+	2	0	INADL	62102862	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-0.340000	0.07821	-1.113000	0.02981	0.555000	0.69702	GCA	INADL	-	NULL	ENSG00000132849		0.483	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	33	0.00	0	C	NM_170605		62330274	62330274	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	missense	9	62.50	15	SNP	0.000	T
INF2	64423	genome.wustl.edu	37	14	105169695	105169695	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:105169695G>A	ENST00000392634.4	+	4	683	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	INF2_ENST00000330634.7_Missense_Mutation_p.V191M|INF2_ENST00000398337.4_Missense_Mutation_p.V191M	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	191	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		CAGCGACAACGTGCCCTACGT	0.642																																						dbGAP											0													87.0	94.0	92.0					14																	105169695		2177	4276	6453	-	-	-	SO:0001583	missense	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.571G>A	14.37:g.105169695G>A	ENSP00000376410:p.Val191Met		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.V191M	ENST00000392634.4	37	c.571	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490355	0.44249	.	.	ENSG00000203485	ENST00000330634;ENST00000398337;ENST00000392634	D;D;D	0.84730	-1.89;-1.89;-1.89	4.48	2.64	0.31445	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.248699	0.23165	U	0.051189	D	0.91277	0.7250	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.958;0.975	D	0.90212	0.4265	10	0.72032	D	0.01	.	10.6008	0.45365	0.1609:0.0:0.8391:0.0	.	191;191	Q27J81-2;Q27J81	.;INF2_HUMAN	M	191	ENSP00000376406:V191M;ENSP00000381380:V191M;ENSP00000376410:V191M	ENSP00000252520:V191M	V	+	1	0	INF2	104240740	1.000000	0.71417	0.998000	0.56505	0.027000	0.11550	3.073000	0.50057	0.330000	0.23485	-0.657000	0.03884	GTG	INF2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000203485		0.642	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	54	0.00	0	G	NM_022489		105169695	105169695	+1	no_errors	ENST00000392634	ensembl	human	known	69_37n	missense	23	43.90	18	SNP	1.000	A
ING3	54556	genome.wustl.edu	37	7	120607994	120607994	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:120607994G>A	ENST00000315870.5	+	8	711	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	ING3_ENST00000431467.1_Missense_Mutation_p.R173Q	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	188					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R188Q(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACAGGTTGTCGAAATAATAAT	0.363																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											78.0	80.0	79.0					7																	120607994		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.563G>A	7.37:g.120607994G>A	ENSP00000320566:p.Arg188Gln		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R188Q	ENST00000315870.5	37	c.563	CCDS5778.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.102295	0.94245	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.46063	0.88;0.88	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.70595	2.14	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.52741	-0.8535	10	0.13470	T	0.59	-11.7225	20.3465	0.98790	0.0:0.0:1.0:0.0	.	188	Q9NXR8	ING3_HUMAN	Q	188;173	ENSP00000320566:R188Q;ENSP00000388506:R173Q	ENSP00000320566:R188Q	R	+	2	0	ING3	120395230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.414000	0.80117	2.798000	0.96311	0.655000	0.94253	CGA	ING3	-	NULL	ENSG00000071243		0.363	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING3	HGNC	protein_coding	OTTHUMT00000280453.2	78	0.00	0	G	NM_019071		120607994	120607994	+1	no_errors	ENST00000315870	ensembl	human	known	69_37n	missense	73	23.96	23	SNP	1.000	A
INTS9	55756	genome.wustl.edu	37	8	28635395	28635395	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:28635395T>C	ENST00000521022.1	-	13	1427	c.1346A>G	c.(1345-1347)gAc>gGc	p.D449G	INTS9_ENST00000521777.1_Missense_Mutation_p.D425G|INTS9_ENST00000416984.2_Missense_Mutation_p.D428G|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000397363.4_Missense_Mutation_p.D343G	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	449					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAGCCGGGTGTCGATGGGGCA	0.507																																						dbGAP											0													98.0	85.0	89.0					8																	28635395		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1346A>G	8.37:g.28635395T>C	ENSP00000429065:p.Asp449Gly		B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	pfam_Beta_Casp	p.D449G	ENST00000521022.1	37	c.1346	CCDS34873.1	8	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589319	0.86851	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.52295	0.67;0.67;0.68;0.67	5.28	5.28	0.74379	.	0.104160	0.64402	D	0.000005	T	0.64724	0.2624	M	0.73217	2.22	0.80722	D	1	D;D	0.67145	0.996;0.982	D;P	0.63113	0.911;0.852	T	0.64947	-0.6287	10	0.37606	T	0.19	-19.6708	15.2068	0.73186	0.0:0.0:0.0:1.0	.	428;449	B7Z6M5;Q9NV88	.;INT9_HUMAN	G	449;428;293;425;343	ENSP00000429065:D449G;ENSP00000398208:D428G;ENSP00000430943:D425G;ENSP00000380520:D343G	ENSP00000380520:D343G	D	-	2	0	INTS9	28691314	1.000000	0.71417	0.656000	0.29637	0.654000	0.38779	7.907000	0.87430	1.991000	0.58162	0.533000	0.62120	GAC	INTS9	-	NULL	ENSG00000104299		0.507	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	HGNC	protein_coding	OTTHUMT00000376846.1	131	0.76	1	T	NM_018250		28635395	28635395	-1	no_errors	ENST00000521022	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	1.000	C
IQSEC2	23096	genome.wustl.edu	37	X	53276254	53276254	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:53276254G>A	ENST00000375368.5	-	7	2816	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	IQSEC2_ENST00000396435.3_Silent_p.F882F|IQSEC2_ENST00000375365.2_Silent_p.F677F			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	872	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AAGCAAGGATGAAGATGGTGT	0.527																																						dbGAP											0													185.0	116.0	139.0					X																	53276254		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2616C>T	X.37:g.53276254G>A			B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.F882	ENST00000375368.5	37	c.2646		X																																																																																			IQSEC2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7	ENSG00000124313		0.527	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		184	0.00	0	G	XM_291345		53276254	53276254	-1	no_errors	ENST00000396435	ensembl	human	known	69_37n	silent	73	47.10	65	SNP	1.000	A
ITIH3	3699	genome.wustl.edu	37	3	52841021	52841021	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:52841021G>C	ENST00000449956.2	+	19	2167	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	721					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTCAGATGGACTTCCAGGT	0.552																																						dbGAP											0													34.0	37.0	36.0					3																	52841021		2053	4192	6245	-	-	-	SO:0001583	missense	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2161G>C	3.37:g.52841021G>C	ENSP00000415769:p.Asp721His		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D721H	ENST00000449956.2	37	c.2161	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	G	12.52	1.964134	0.34659	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.12569	2.67	5.41	4.52	0.55395	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.115327	0.64402	D	0.000020	T	0.34513	0.0900	M	0.83953	2.67	0.22701	N	0.998836	D	0.71674	0.998	D	0.68353	0.957	T	0.19031	-1.0318	10	0.46703	T	0.11	-28.0607	7.6262	0.28214	0.0877:0.168:0.7443:0.0	.	721	Q06033	ITIH3_HUMAN	H	716;721	ENSP00000415769:D721H	ENSP00000273291:D716H	D	+	1	0	ITIH3	52816061	0.989000	0.36119	0.797000	0.32132	0.147000	0.21601	1.948000	0.40303	1.266000	0.44231	0.555000	0.69702	GAC	ITIH3	-	pfam_ITI_HC_C	ENSG00000162267		0.552	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	37	0.00	0	G	NM_002217		52841021	52841021	+1	no_errors	ENST00000449956	ensembl	human	known	69_37n	missense	10	54.55	12	SNP	0.449	C
ITK	3702	genome.wustl.edu	37	5	156641279	156641279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:156641279C>T	ENST00000422843.3	+	4	555	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	135					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GTGCTGTTCTCAGCTGGAGAA	0.428			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	dbGAP		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													129.0	123.0	125.0					5																	156641279		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.403C>T	5.37:g.156641279C>T	ENSP00000398655:p.Gln135*		B2R752|Q32ML7	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.Q135*	ENST00000422843.3	37	c.403	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.447224	0.97572	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.1683	0.89736	0.0:1.0:0.0:0.0	.	.	.	.	X	10;135	.	ENSP00000398655:Q135X	Q	+	1	0	ITK	156573857	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.887000	0.69751	2.565000	0.86533	0.655000	0.94253	CAG	ITK	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif	ENSG00000113263		0.428	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	102	0.00	0	C			156641279	156641279	+1	no_errors	ENST00000422843	ensembl	human	known	69_37n	nonsense	78	29.73	33	SNP	1.000	T
ITPR2	3709	genome.wustl.edu	37	12	26750047	26750047	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:26750047G>A	ENST00000381340.3	-	31	4439	c.4023C>T	c.(4021-4023)gaC>gaT	p.D1341D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1341					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATATCAGCACGTCTTCACCCC	0.423																																						dbGAP											0													154.0	146.0	148.0					12																	26750047		1936	4145	6081	-	-	-	SO:0001819	synonymous_variant	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4023C>T	12.37:g.26750047G>A			O94773	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.D1341	ENST00000381340.3	37	c.4023	CCDS41764.1	12																																																																																			ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold	ENSG00000123104		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	81	0.00	0	G	NM_002223		26750047	26750047	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	silent	52	31.58	24	SNP	0.996	A
ITPRIPL1	150771	genome.wustl.edu	37	2	96993969	96993969	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:96993969G>A	ENST00000439118.2	+	3	1851	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.E542K|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.E526K|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.E526K	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	534						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACAGGCAGTGGAAGAGTTCCA	0.498																																						dbGAP											0													44.0	46.0	45.0					2																	96993969		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.1600G>A	2.37:g.96993969G>A	ENSP00000389308:p.Glu534Lys		F5H1L8|Q8NE61	Nonsense_Mutation	SNP	NULL	p.W565*	ENST00000439118.2	37	c.1695	CCDS46360.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.70|14.70	2.612539|2.612539	0.46631|0.46631	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	T;T;T;T|.	0.06449|.	3.3;3.3;3.3;3.3|.	5.63|5.63	4.68|4.68	0.58851|0.58851	.|.	0.329715|.	0.22181|.	N|.	0.063510|.	T|.	0.26629|.	0.0651|.	N|N	0.14661|0.14661	0.345|0.345	0.29974|0.29974	N|N	0.818288|0.818288	B;B|.	0.31153|.	0.264;0.31|.	B;B|.	0.24848|.	0.033;0.056|.	T|.	0.08186|.	-1.0734|.	10|.	0.33141|.	T|.	0.24|.	-13.6252|-13.6252	7.0287|7.0287	0.24954|0.24954	0.151:0.0:0.849:0.0|0.151:0.0:0.849:0.0	.|.	542;534|.	Q6GPH6-2;Q6GPH6|.	.;IPIL1_HUMAN|.	K|X	526;534;542;526|565	ENSP00000439566:E526K;ENSP00000389308:E534K;ENSP00000355121:E542K;ENSP00000438212:E526K|.	ENSP00000355121:E542K|.	E|W	+|+	1|3	0|0	ITPRIPL1|ITPRIPL1	96357696|96357696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	2.824000|2.824000	0.48088|0.48088	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	GAA|TGG	ITPRIPL1	-	NULL	ENSG00000198885		0.498	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	ITPRIPL1	HGNC	protein_coding	OTTHUMT00000338896.1	15	0.00	0	G	NM_178495		96993969	96993969	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000420728	ensembl	human	putative	69_37n	nonsense	13	40.91	9	SNP	0.990	A
IZUMO1	284359	genome.wustl.edu	37	19	49249107	49249107	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:49249107G>A	ENST00000332955.2	-	2	557	c.10C>T	c.(10-12)Cat>Tat	p.H4Y		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	4					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AGGGTAAAATGCGGCCCCATT	0.602																																						dbGAP											0													41.0	50.0	47.0					19																	49249107		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.10C>T	19.37:g.49249107G>A	ENSP00000327786:p.His4Tyr		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	NULL	p.H4Y	ENST00000332955.2	37	c.10	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005196	0.19199	.	.	ENSG00000182264	ENST00000332955	T	0.24723	1.84	4.45	-5.46	0.02608	.	2.143050	0.01654	N	0.024701	T	0.14313	0.0346	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.26849	-1.0091	10	0.02654	T	1	-0.1146	0.4714	0.00532	0.3655:0.1258:0.2316:0.2771	.	4	Q8IYV9	IZUM1_HUMAN	Y	4	ENSP00000327786:H4Y	ENSP00000327786:H4Y	H	-	1	0	IZUMO1	53940919	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.028000	0.03589	-0.845000	0.04179	-0.397000	0.06425	CAT	IZUMO1	-	NULL	ENSG00000182264		0.602	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	HGNC	protein_coding	OTTHUMT00000466189.1	43	0.00	0	G	NM_182575		49249107	49249107	-1	no_errors	ENST00000332955	ensembl	human	known	69_37n	missense	36	35.71	20	SNP	0.000	A
JAG1	182	genome.wustl.edu	37	20	10632838	10632838	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:10632838C>T	ENST00000254958.5	-	7	1462	c.947G>A	c.(946-948)gGc>gAc	p.G316D	JAG1_ENST00000423891.2_Missense_Mutation_p.G157D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	316	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTTGTCAGGGCCTGTGTTGCT	0.478									Alagille Syndrome																													dbGAP											0													80.0	74.0	76.0					20																	10632838		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.947G>A	20.37:g.10632838C>T	ENSP00000254958:p.Gly316Asp		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.G316D	ENST00000254958.5	37	c.947	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271340	0.23221	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.92647	-3.08;-3.08	5.4	5.4	0.78164	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	L	0.59912	1.85	0.58432	D	0.999999	B	0.33964	0.434	B	0.40038	0.317	D	0.87507	0.2437	10	0.06625	T	0.88	.	19.5265	0.95209	0.0:1.0:0.0:0.0	.	316	P78504	JAG1_HUMAN	D	316;157	ENSP00000254958:G316D;ENSP00000389519:G157D	ENSP00000254958:G316D	G	-	2	0	JAG1	10580838	1.000000	0.71417	0.306000	0.25113	0.953000	0.61014	6.050000	0.71063	2.684000	0.91462	0.650000	0.86243	GGC	JAG1	-	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000101384		0.478	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		85	0.00	0	C	NM_000214		10632838	10632838	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	missense	45	34.78	24	SNP	0.999	T
JMJD1C	221037	genome.wustl.edu	37	10	65140109	65140109	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:65140109G>A	ENST00000399262.2	-	2	520	c.302C>T	c.(301-303)tCa>tTa	p.S101L	JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	101					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTGCTCTTTGATCCCTGAGT	0.373																																						dbGAP											0													168.0	163.0	164.0					10																	65140109		1868	4108	5976	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.302C>T	10.37:g.65140109G>A	ENSP00000382204:p.Ser101Leu		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S101L	ENST00000399262.2	37	c.302	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.660512	0.96734	.	.	ENSG00000171988	ENST00000399262	T	0.44881	0.91	6.17	6.17	0.99709	.	0.165266	0.25789	U	0.028290	T	0.41650	0.1168	N	0.19112	0.55	0.80722	D	1	P;B	0.45531	0.86;0.191	P;B	0.47075	0.536;0.09	T	0.26916	-1.0089	10	0.59425	D	0.04	-5.9863	20.4898	0.99202	0.0:0.0:1.0:0.0	.	113;101	G3V2H5;Q15652	.;JHD2C_HUMAN	L	101	ENSP00000382204:S101L	ENSP00000382204:S101L	S	-	2	0	JMJD1C	64810115	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.402000	0.97298	2.941000	0.99782	0.655000	0.94253	TCA	JMJD1C	-	NULL	ENSG00000171988		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	110	0.00	0	G	NM_004241		65140109	65140109	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	48	40.00	32	SNP	1.000	A
JMY	133746	genome.wustl.edu	37	5	78533503	78533503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:78533503G>T	ENST00000396137.4	+	1	1492	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	344					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GCGCATCCAGGAGGTGAGTGA	0.587																																						dbGAP											0													35.0	40.0	38.0					5																	78533503		2018	4190	6208	-	-	-	SO:0001587	stop_gained	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1030G>T	5.37:g.78533503G>T	ENSP00000379441:p.Glu344*		A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	pfscan_WH2_dom	p.E344*	ENST00000396137.4	37	c.1030	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	43	10.372307	0.99393	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.22	4.29	0.51040	.	0.146541	0.43416	U	0.000562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	14.8872	0.70579	0.0:0.1442:0.8557:0.0	.	.	.	.	X	344	.	ENSP00000282259:E344X	E	+	1	0	JMY	78569259	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.959000	0.63666	2.442000	0.82660	0.563000	0.77884	GAG	JMY	-	NULL	ENSG00000152409		0.587	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	29	0.00	0	G	NM_152405		78533503	78533503	+1	no_errors	ENST00000396137	ensembl	human	known	69_37n	nonsense	10	52.38	11	SNP	1.000	T
JPH4	84502	genome.wustl.edu	37	14	24041029	24041029	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:24041029G>A	ENST00000397118.3	-	5	2154	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	JPH4_ENST00000356300.4_Missense_Mutation_p.P418S|JPH4_ENST00000544177.1_Missense_Mutation_p.P83S	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	418					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCTAGCATGGGCTGCAGGTCC	0.632																																						dbGAP											0													91.0	86.0	88.0					14																	24041029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1252C>T	14.37:g.24041029G>A	ENSP00000380307:p.Pro418Ser		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.P418S	ENST00000397118.3	37	c.1252	CCDS9603.1	14	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502250	0.85176	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	D;D;T	0.83506	-1.73;-1.73;-0.95	5.24	5.24	0.73138	.	0.000000	0.29987	U	0.010693	D	0.89451	0.6719	L	0.58810	1.83	0.48762	D	0.999709	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.89707	0.3909	10	0.59425	D	0.04	.	16.659	0.85236	0.0:0.0:1.0:0.0	.	83;418	F5H1L9;Q96JJ6	.;JPH4_HUMAN	S	418;418;418;419;83	ENSP00000348648:P418S;ENSP00000380307:P418S;ENSP00000439562:P83S	ENSP00000267407:P419S	P	-	1	0	JPH4	23110869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.618000	0.74214	2.612000	0.88384	0.561000	0.74099	CCC	JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.632	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	48	0.00	0	G	NM_032452		24041029	24041029	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	A
KBTBD2	25948	genome.wustl.edu	37	7	32908995	32908995	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:32908995C>G	ENST00000304056.4	-	4	2533	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	612										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CCATCCAGTTCAAACTCTTCT	0.443																																						dbGAP											0													102.0	96.0	98.0					7																	32908995		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1834G>C	7.37:g.32908995C>G	ENSP00000302586:p.Glu612Gln		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E612Q	ENST00000304056.4	37	c.1834	CCDS34614.1	7	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081530	0.55753	.	.	ENSG00000170852	ENST00000304056	T	0.68331	-0.32	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	N	0.24115	0.695	0.53005	D	0.999963	P	0.45531	0.86	B	0.41332	0.354	T	0.60110	-0.7327	10	0.41790	T	0.15	.	18.9751	0.92733	0.0:1.0:0.0:0.0	.	612	Q8IY47	KBTB2_HUMAN	Q	612	ENSP00000302586:E612Q	ENSP00000302586:E612Q	E	-	1	0	KBTBD2	32875520	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.495000	0.84180	0.591000	0.81541	GAA	KBTBD2	-	NULL	ENSG00000170852		0.443	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD2	HGNC	protein_coding	OTTHUMT00000328890.1	93	0.00	0	C	XM_291224		32908995	32908995	-1	no_errors	ENST00000304056	ensembl	human	known	69_37n	missense	71	38.26	44	SNP	1.000	G
KCNA6	3742	genome.wustl.edu	37	12	4919268	4919268	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:4919268G>C	ENST00000280684.3	+	1	927	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	KCNA6_ENST00000433855.1_Missense_Mutation_p.E21Q|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	21					potassium ion transport (GO:0006813)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCCGGAGGGAGAGCAACAGGA	0.697										HNSCC(72;0.22)																												dbGAP											0													19.0	27.0	24.0					12																	4919268		2198	4294	6492	-	-	-	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.61G>C	12.37:g.4919268G>C	ENSP00000280684:p.Glu21Gln			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E21Q	ENST00000280684.3	37	c.61	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731442	0.30684	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97303	-4.33;-4.33	4.46	3.57	0.40892	.	0.261008	0.29266	N	0.012660	D	0.91061	0.7187	N	0.14661	0.345	0.31868	N	0.620043	B	0.14012	0.009	B	0.08055	0.003	D	0.85914	0.1442	10	0.13853	T	0.58	.	11.0791	0.48049	0.0917:0.0:0.9083:0.0	.	21	P17658	KCNA6_HUMAN	Q	21	ENSP00000408321:E21Q;ENSP00000280684:E21Q	ENSP00000280684:E21Q	E	+	1	0	KCNA6	4789529	1.000000	0.71417	0.935000	0.37517	0.992000	0.81027	2.270000	0.43355	1.089000	0.41292	0.462000	0.41574	GAG	KCNA6	-	prints_K_chnl_volt-dep_Kv1.6	ENSG00000151079		0.697	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	13	0.00	0	G	NM_002235		4919268	4919268	+1	no_errors	ENST00000280684	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.745	C
KCNA6	3742	genome.wustl.edu	37	12	4919634	4919634	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:4919634G>A	ENST00000280684.3	+	1	1293	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNA6_ENST00000433855.1_Missense_Mutation_p.E143K|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	143					potassium ion transport (GO:0006813)|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)|voltage-gated potassium channel activity (GO:0005249)	p.E143K(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTGCCTGCCCGAAGGTGGCGA	0.677										HNSCC(72;0.22)																												dbGAP											1	Substitution - Missense(1)	large_intestine(1)											33.0	38.0	36.0					12																	4919634		2203	4300	6503	-	-	-	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.427G>A	12.37:g.4919634G>A	ENSP00000280684:p.Glu143Lys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E143K	ENST00000280684.3	37	c.427	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743567	0.49151	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97665	-4.48;-4.48	4.87	4.87	0.63330	.	0.000000	0.40222	N	0.001153	D	0.96436	0.8837	N	0.25647	0.755	0.44098	D	0.996868	D	0.76494	0.999	D	0.68621	0.959	D	0.94841	0.8005	10	0.22109	T	0.4	.	15.3337	0.74234	0.0:0.0:1.0:0.0	.	143	P17658	KCNA6_HUMAN	K	143	ENSP00000408321:E143K;ENSP00000280684:E143K	ENSP00000280684:E143K	E	+	1	0	KCNA6	4789895	0.974000	0.33945	0.748000	0.31131	0.983000	0.72400	2.675000	0.46875	2.524000	0.85096	0.563000	0.77884	GAA	KCNA6	-	prints_K_chnl_volt-dep_Kv1.6	ENSG00000151079		0.677	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	35	0.00	0	G	NM_002235		4919634	4919634	+1	no_errors	ENST00000280684	ensembl	human	known	69_37n	missense	11	50.00	11	SNP	0.673	A
KCNC2	3747	genome.wustl.edu	37	12	75436094	75436097	+	3'UTR	DEL	TAAG	TAAG	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	TAAG	TAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:75436094_75436097delTAAG	ENST00000549446.1	-	0	3385_3388				RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000350228.2_Stop_Codon_Del|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000548513.1_Stop_Codon_Del|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Stop_Codon_Del	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CCCAAGTCATTAAGTAAGAGATCT	0.436																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*791CTTA>-	12.37:g.75436098_75436101delTAAG			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.T613fs	ENST00000549446.1	37	c.1841_1838	CCDS9007.1	12																																																																																			KCNC2	-	NULL	ENSG00000166006		0.436	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	124	0.00	0	TAAG	NM_153748		75436094	75436097	-1	no_errors	ENST00000298972	ensembl	human	known	69_37n	frame_shift_del	149	12.87	22	DEL	1.000:1.000:1.000:1.000	-
KCNT2	343450	genome.wustl.edu	37	1	196309545	196309545	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:196309545C>G	ENST00000294725.9	-	16	2624	c.1709G>C	c.(1708-1710)aGa>aCa	p.R570T	KCNT2_ENST00000609185.1_Missense_Mutation_p.R520T|KCNT2_ENST00000451324.2_Missense_Mutation_p.R181T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R570T|KCNT2_ENST00000367431.4_Missense_Mutation_p.R520T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	570					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R570I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGCTTTTTCTCTGCTGGTC	0.343																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											119.0	111.0	114.0					1																	196309545		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1709G>C	1.37:g.196309545C>G	ENSP00000294725:p.Arg570Thr		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.R570T	ENST00000294725.9	37	c.1709	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602913	0.28534	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.30182	2.27;2.28;1.54;2.53	5.84	2.85	0.33270	.	0.162631	0.43747	D	0.000523	T	0.21307	0.0513	L	0.43152	1.355	0.26426	N	0.976014	B;B;B;B;B	0.16396	0.002;0.017;0.007;0.007;0.002	B;B;B;B;B	0.19666	0.002;0.026;0.026;0.009;0.002	T	0.28744	-1.0034	10	0.13470	T	0.59	-11.6251	6.8685	0.24106	0.0:0.596:0.0:0.404	.	570;552;570;520;570	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	T	570;520;391;181;570	ENSP00000356403:R570T;ENSP00000356401:R520T;ENSP00000405474:R181T;ENSP00000294725:R570T	ENSP00000294725:R570T	R	-	2	0	KCNT2	194576168	0.906000	0.30813	0.999000	0.59377	0.819000	0.46315	1.163000	0.31798	0.293000	0.22520	-0.143000	0.13931	AGA	KCNT2	-	NULL	ENSG00000162687		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	143	0.00	0	C	NM_198503		196309545	196309545	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	missense	161	31.49	74	SNP	0.775	G
KCTD19	146212	genome.wustl.edu	37	16	67327655	67327655	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:67327655G>T	ENST00000304372.5	-	12	2065	c.2010C>A	c.(2008-2010)ctC>ctA	p.L670L		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	670					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTCCCAAGGGGAGCTGCAGGG	0.617																																						dbGAP											0													78.0	88.0	84.0					16																	67327655		2085	4203	6288	-	-	-	SO:0001819	synonymous_variant	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2010C>A	16.37:g.67327655G>T			B4DZ49|Q8N804	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.L670	ENST00000304372.5	37	c.2010	CCDS42179.1	16																																																																																			KCTD19	-	NULL	ENSG00000168676		0.617	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	88	0.00	0	G	XM_085367		67327655	67327655	-1	no_errors	ENST00000304372	ensembl	human	known	69_37n	silent	24	54.72	29	SNP	0.090	T
KDELC1	79070	genome.wustl.edu	37	13	103443621	103443621	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:103443621C>T	ENST00000376004.4	-	5	1168	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	278						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCCATGGTTTCCAGAACAGAA	0.443																																						dbGAP											0													241.0	259.0	253.0					13																	103443621		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.832G>A	13.37:g.103443621C>T	ENSP00000365172:p.Glu278Lys		Q53HL3|Q9BVD2	Missense_Mutation	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.E278K	ENST00000376004.4	37	c.832	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.428446	0.96131	.	.	ENSG00000134901	ENST00000376004	T	0.30448	1.53	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.81942	2.565	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.60692	-0.7213	10	0.52906	T	0.07	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	278	Q6UW63	KDEL1_HUMAN	K	278	ENSP00000365172:E278K	ENSP00000365172:E278K	E	-	1	0	KDELC1	102241622	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAA	KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000134901		0.443	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	103	0.00	0	C			103443621	103443621	-1	no_errors	ENST00000376004	ensembl	human	known	69_37n	missense	35	54.55	42	SNP	1.000	T
KDM5C	8242	genome.wustl.edu	37	X	53224232	53224232	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:53224232C>G	ENST00000375401.3	-	22	3851	c.3319G>C	c.(3319-3321)Gat>Cat	p.D1107H	KDM5C_ENST00000404049.3_Missense_Mutation_p.D1106H|KDM5C_ENST00000375379.3_Missense_Mutation_p.D1107H|KDM5C_ENST00000452825.3_Missense_Mutation_p.D1040H|KDM5C_ENST00000375383.3_Missense_Mutation_p.D1066H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1107					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAGCCGGCATCTGCACATGGG	0.607			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													47.0	35.0	39.0					X																	53224232		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3319G>C	X.37:g.53224232C>G	ENSP00000364550:p.Asp1107His		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D1107H	ENST00000375401.3	37	c.3319	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	10.46	1.356900	0.24598	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87256	-2.23;-1.96;-1.96;-1.96;-2.1	4.78	4.78	0.61160	.	0.106597	0.64402	D	0.000005	D	0.84656	0.5520	L	0.46157	1.445	0.43745	D	0.996246	B;B;B	0.23650	0.089;0.031;0.031	B;B;B	0.30316	0.114;0.053;0.053	D	0.83482	0.0065	10	0.66056	D	0.02	-18.4147	14.4026	0.67060	0.0:1.0:0.0:0.0	.	1040;1106;1107	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	1040;1107;1106;1107;1066	ENSP00000445176:D1040H;ENSP00000364550:D1107H;ENSP00000385394:D1106H;ENSP00000364528:D1107H;ENSP00000364532:D1066H	ENSP00000364528:D1107H	D	-	1	0	KDM5C	53240957	1.000000	0.71417	0.997000	0.53966	0.734000	0.41952	4.136000	0.58004	1.976000	0.57569	0.525000	0.51046	GAT	KDM5C	-	NULL	ENSG00000126012		0.607	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	59	0.00	0	C	NM_004187		53224232	53224232	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	missense	17	55.26	21	SNP	1.000	G
KDR	3791	genome.wustl.edu	37	4	55964914	55964914	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:55964914C>T	ENST00000263923.4	-	16	2618	c.2323G>A	c.(2323-2325)Gcc>Acc	p.A775T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	775					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGAACATGGCAATCACCGCC	0.413			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													119.0	119.0	119.0					4																	55964914		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2323G>A	4.37:g.55964914C>T	ENSP00000263923:p.Ala775Thr		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.A775T	ENST00000263923.4	37	c.2323	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.329447	0.95733	.	.	ENSG00000128052	ENST00000263923	T	0.79749	-1.3	5.97	5.97	0.96955	.	0.054240	0.64402	D	0.000001	D	0.89619	0.6767	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.88606	0.3153	10	0.51188	T	0.08	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	775	P35968	VGFR2_HUMAN	T	775	ENSP00000263923:A775T	ENSP00000263923:A775T	A	-	1	0	KDR	55659671	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.776000	0.85560	2.831000	0.97527	0.655000	0.94253	GCC	KDR	-	NULL	ENSG00000128052		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	76	0.00	0	C			55964914	55964914	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	1.000	T
KIAA0020	9933	genome.wustl.edu	37	9	2811363	2811363	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:2811363C>G	ENST00000397885.2	-	15	1839	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	545						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CACATTACCTCTCCGTCCTTG	0.532																																						dbGAP											0													145.0	135.0	138.0					9																	2811363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.1633G>C	9.37:g.2811363C>G	ENSP00000380982:p.Glu545Gln		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E545Q	ENST00000397885.2	37	c.1633	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	9.258	1.042384	0.19748	.	.	ENSG00000080608	ENST00000397885	T	0.46063	0.88	6.17	5.27	0.74061	CPL (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.195401	0.53938	N	0.000041	T	0.25195	0.0612	N	0.05280	-0.08	0.45676	D	0.998596	B;B	0.17038	0.009;0.02	B;B	0.24006	0.026;0.05	T	0.06661	-1.0814	10	0.19590	T	0.45	-29.7013	15.8956	0.79333	0.0:0.596:0.404:0.0	.	405;545	B2RDG4;Q15397	.;K0020_HUMAN	Q	545	ENSP00000380982:E545Q	ENSP00000380982:E545Q	E	-	1	0	KIAA0020	2801363	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.870000	0.39529	1.611000	0.50210	0.655000	0.94253	GAG	KIAA0020	-	pfam_CPL,superfamily_ARM-type_fold	ENSG00000080608		0.532	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	89	0.00	0	C	NM_014878		2811363	2811363	-1	no_errors	ENST00000397885	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	1.000	G
KIAA0226	9711	genome.wustl.edu	37	3	197427635	197427635	+	Silent	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:197427635C>A	ENST00000296343.5	-	7	1109	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	KIAA0226_ENST00000389665.5_Silent_p.G370G|KIAA0226_ENST00000273582.5_Silent_p.G310G|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Silent_p.G370G	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	370	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTTCCTGGTCCCCTAAGGAAG	0.577																																					Esophageal Squamous(3;167 355 3763 15924)	dbGAP											0													53.0	57.0	56.0					3																	197427635		1997	4182	6179	-	-	-	SO:0001819	synonymous_variant	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1110G>T	3.37:g.197427635C>A			Q96CK5	Nonsense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.G349*	ENST00000296343.5	37	c.1045	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.920|7.920	0.738401|0.738401	0.15574|0.15574	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000413360	.|.	.|.	.|.	5.85|5.85	-4.97|-4.97	0.03029|0.03029	.|.	0.315137|0.315137	0.31542|0.31542	N|N	0.007471|0.007471	T|.	0.34048|.	0.0884|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14811|.	-1.0459|.	6|.	0.20046|0.20519	T|T	0.44|0.43	.|.	2.7533|2.7533	0.05287|0.05287	0.0999:0.2615:0.1959:0.4427|0.0999:0.2615:0.1959:0.4427	.|.	.|.	.|.	.|.	V|X	129|349	.|.	ENSP00000409618:G129V|ENSP00000405115:G349X	G|G	-|-	2|1	0|0	KIAA0226|KIAA0226	198912032|198912032	0.668000|0.668000	0.27493|0.27493	0.665000|0.665000	0.29768|0.29768	0.855000|0.855000	0.48748|0.48748	-0.137000|-0.137000	0.10389|0.10389	-1.121000|-1.121000	0.02949|0.02949	-0.150000|-0.150000	0.13652|0.13652	GGG|GGA	KIAA0226	-	NULL	ENSG00000145016		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	49	0.00	0	C	XM_032901		197427635	197427635	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000413360	ensembl	human	novel	69_37n	nonsense	13	61.76	21	SNP	0.459	A
KIAA0226	9711	genome.wustl.edu	37	3	197427778	197427778	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:197427778C>G	ENST00000296343.5	-	7	966	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E323Q|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E263Q|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Missense_Mutation_p.E323Q	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	323	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCCAGGTACTCAGGCCCCTCA	0.577																																					Esophageal Squamous(3;167 355 3763 15924)	dbGAP											0													41.0	44.0	43.0					3																	197427778		1986	4175	6161	-	-	-	SO:0001583	missense	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.967G>C	3.37:g.197427778C>G	ENSP00000296343:p.Glu323Gln		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.E323Q	ENST00000296343.5	37	c.967	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.715539|4.715539	0.89112|0.89112	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000413360	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.113706|.	0.64402|.	D|.	0.000015|.	T|.	0.59742|.	0.2216|.	L|L	0.34521|0.34521	1.04|1.04	0.51767|0.51767	D|D	0.999932|0.999932	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.999;1.0|.	D;D;D;D;D|.	0.91635|.	0.997;0.995;0.999;0.973;0.997|.	T|.	0.53244|.	-0.8466|.	9|.	0.38643|.	T|.	0.18|.	.|.	18.0534|18.0534	0.89356|0.89356	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;156;323;263;323|.	E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;.;RUBIC_HUMAN|.	Q|S	263;323;323;323|301	.|.	ENSP00000273582:E263Q|.	E|X	-|-	1|2	0|2	KIAA0226|KIAA0226	198912175|198912175	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.997000|0.997000	0.91878|0.91878	6.930000|6.930000	0.75858|0.75858	2.699000|2.699000	0.92147|0.92147	0.561000|0.561000	0.74099|0.74099	GAG|TGA	KIAA0226	-	NULL	ENSG00000145016		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	31	0.00	0	C	XM_032901		197427778	197427778	-1	no_errors	ENST00000296343	ensembl	human	known	69_37n	missense	6	76.00	19	SNP	1.000	G
KIAA0556	23247	genome.wustl.edu	37	16	27777778	27777778	+	Missense_Mutation	SNP	G	G	A	rs181329078	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:27777778G>A	ENST00000261588.4	+	20	3977	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1320						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TAAATCTCCCGAGGACACCTA	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18899	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													49.0	49.0	49.0					16																	27777778		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3958G>A	16.37:g.27777778G>A	ENSP00000261588:p.Glu1320Lys		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E1320K	ENST00000261588.4	37	c.3958	CCDS32415.1	16	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	34	5.381437	0.95945	.	.	ENSG00000047578	ENST00000261588	T	0.15834	2.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44847	-0.9301	10	0.52906	T	0.07	.	18.8967	0.92426	0.0:0.0:1.0:0.0	.	1320	O60303	K0556_HUMAN	K	1320	ENSP00000261588:E1320K	ENSP00000261588:E1320K	E	+	1	0	KIAA0556	27685279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.669000	0.98622	2.558000	0.86282	0.591000	0.81541	GAG	KIAA0556	-	NULL	ENSG00000047578		0.617	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	47	0.00	0	G	NM_015202		27777778	27777778	+1	no_errors	ENST00000261588	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	1.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123239410	123239410	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:123239410G>A	ENST00000264501.4	+	63	11152	c.10779G>A	c.(10777-10779)cgG>cgA	p.R3593R	KIAA1109_ENST00000455637.1_Silent_p.R3593R|KIAA1109_ENST00000388738.3_Silent_p.R3593R			Q2LD37	K1109_HUMAN	KIAA1109	3593					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAATTACGGAGGTCCAGTA	0.408																																						dbGAP											0													152.0	147.0	148.0					4																	123239410		1857	4092	5949	-	-	-	SO:0001819	synonymous_variant	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10779G>A	4.37:g.123239410G>A			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	NULL	p.E1551K	ENST00000264501.4	37	c.4651	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	8.516	0.867579	0.17250	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.09	3.01	0.34805	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	.	4.4538	0.11633	0.2598:0.0:0.557:0.1831	.	.	.	.	K	1551	.	.	E	+	1	0	KIAA1109	123458860	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.329000	0.19698	1.154000	0.42482	-0.142000	0.14014	GAG	KIAA1109	-	NULL	ENSG00000138688		0.408	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	90	0.00	0	G	NM_020797		123239410	123239410	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419325	ensembl	human	putative	69_37n	missense	46	54.46	55	SNP	0.997	A
KIAA1456	57604	genome.wustl.edu	37	8	12878609	12878609	+	Missense_Mutation	SNP	G	G	A	rs373979768		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:12878609G>A	ENST00000524591.2	+	5	910	c.421G>A	c.(421-423)Gtt>Att	p.V141I	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	141							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GATGATTTACGTTTGGGCAAT	0.438																																						dbGAP											0													47.0	44.0	45.0					8																	12878609		1881	4105	5986	-	-	-	SO:0001583	missense	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.421G>A	8.37:g.12878609G>A	ENSP00000432695:p.Val141Ile		Q96AW6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.V141I	ENST00000524591.2	37	c.421	CCDS47808.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178070	0.78564	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.44881	0.91	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.80058	-0.1541	10	0.72032	D	0.01	-25.0468	19.7937	0.96469	0.0:0.0:1.0:0.0	.	141	Q9P272	K1456_HUMAN	I	141;54	ENSP00000432695:V141I	ENSP00000432695:V141I	V	+	1	0	AC135352.2	12922980	1.000000	0.71417	0.271000	0.24616	0.294000	0.27393	9.444000	0.97578	2.749000	0.94314	0.655000	0.94253	GTT	KIAA1456	-	NULL	ENSG00000250305		0.438	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	Clone_based_vega_gene	protein_coding	OTTHUMT00000383262.2	52	0.00	0	G	NM_001099677		12878609	12878609	+1	no_errors	ENST00000524591	ensembl	human	known	69_37n	missense	19	54.76	23	SNP	0.995	A
KIAA1429	25962	genome.wustl.edu	37	8	95523890	95523890	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:95523890C>T	ENST00000297591.5	-	13	2988	c.2913G>A	c.(2911-2913)acG>acA	p.T971T	KIAA1429_ENST00000523405.1_5'Flank|KIAA1429_ENST00000437199.1_Silent_p.T971T|KIAA1429_ENST00000421249.2_Silent_p.T971T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	971					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTCGAATAAACGTGTCCATTC	0.378																																						dbGAP											0													64.0	68.0	67.0					8																	95523890		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2913G>A	8.37:g.95523890C>T			Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	superfamily_ARM-type_fold	p.T971	ENST00000297591.5	37	c.2913	CCDS34923.1	8																																																																																			KIAA1429	-	NULL	ENSG00000164944		0.378	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	25	0.00	0	C	NM_015496		95523890	95523890	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	silent	21	41.67	15	SNP	0.997	T
KIAA1755	85449	genome.wustl.edu	37	20	36845798	36845798	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:36845798C>T	ENST00000279024.4	-	13	3029	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	920										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCTGCACGTTCTGCCTCCCCA	0.672																																						dbGAP											0													38.0	32.0	34.0					20																	36845798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2758G>A	20.37:g.36845798C>T	ENSP00000279024:p.Glu920Lys		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.E920K	ENST00000279024.4	37	c.2758	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	3.614	-0.078885	0.07141	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.22743	3.39;1.94	3.63	3.63	0.41609	.	0.501323	0.16874	N	0.196012	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.039;0.016	B;B	0.18263	0.021;0.02	T	0.24012	-1.0172	10	0.05959	T	0.93	.	11.0971	0.48152	0.0:1.0:0.0:0.0	.	920;428	Q5JYT7;E9PFS1	K1755_HUMAN;.	K	920;428;219	ENSP00000279024:E920K;ENSP00000393503:E219K	ENSP00000279024:E920K	E	-	1	0	KIAA1755	36279212	0.006000	0.16342	0.005000	0.12908	0.001000	0.01503	2.750000	0.47500	2.322000	0.78497	0.561000	0.74099	GAA	KIAA1755	-	NULL	ENSG00000149633		0.672	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	39	0.00	0	C	NM_001029864		36845798	36845798	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	0.005	T
CCDC183	84960	genome.wustl.edu	37	9	139697137	139697137	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:139697137G>C	ENST00000338005.6	+	6	600	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		189										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATACCCCATTGAGCTGGACAA	0.537																																						dbGAP											0													114.0	122.0	119.0					9																	139697137		2011	4181	6192	-	-	-	SO:0001583	missense	0																														ENST00000338005.6:c.565G>C	9.37:g.139697137G>C	ENSP00000338013:p.Glu189Gln		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.E189Q	ENST00000338005.6	37	c.565	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	2.026	-0.423661	0.04734	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.10382	2.88	4.83	0.296	0.15757	.	0.629193	0.13028	U	0.419541	T	0.07954	0.0199	L	0.45581	1.43	0.18873	N	0.999988	B	0.16396	0.017	B	0.12156	0.007	T	0.43621	-0.9380	10	0.12430	T	0.62	-10.3709	5.6219	0.17461	0.2225:0.4663:0.3112:0.0	.	189	Q5T5S1	K1984_HUMAN	Q	189	ENSP00000338013:E189Q	ENSP00000338013:E189Q	E	+	1	0	KIAA1984	138816958	0.029000	0.19370	0.059000	0.19551	0.015000	0.08874	-0.016000	0.12613	0.151000	0.19162	0.561000	0.74099	GAG	KIAA1984	-	NULL	ENSG00000213213		0.537	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	82	0.00	0	G			139697137	139697137	+1	no_errors	ENST00000338005	ensembl	human	known	69_37n	missense	52	34.57	28	SNP	0.053	C
KIF11	3832	genome.wustl.edu	37	10	94388635	94388635	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:94388635G>C	ENST00000260731.3	+	11	1378	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	430					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGCTGTTGAGGAGGAGCT	0.279																																					Colon(47;212 1003 2764 4062 8431)	dbGAP											0													55.0	53.0	54.0					10																	94388635		2203	4298	6501	-	-	-	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1288G>C	10.37:g.94388635G>C	ENSP00000260731:p.Glu430Gln		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E430Q	ENST00000260731.3	37	c.1288	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197802	0.79015	.	.	ENSG00000138160	ENST00000260731	T	0.74421	-0.84	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	M	0.76838	2.35	0.58432	D	0.999995	D	0.59357	0.985	P	0.53549	0.729	D	0.83650	0.0155	10	0.45353	T	0.12	.	18.9507	0.92640	0.0:0.0:1.0:0.0	.	430	P52732	KIF11_HUMAN	Q	430	ENSP00000260731:E430Q	ENSP00000260731:E430Q	E	+	1	0	KIF11	94378615	1.000000	0.71417	0.989000	0.46669	0.955000	0.61496	7.942000	0.87708	2.583000	0.87209	0.491000	0.48974	GAG	KIF11	-	NULL	ENSG00000138160		0.279	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	73	0.00	0	G	NM_004523		94388635	94388635	+1	no_errors	ENST00000260731	ensembl	human	known	69_37n	missense	32	47.54	29	SNP	1.000	C
KPNB1	3837	genome.wustl.edu	37	17	45734337	45734337	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:45734337C>A	ENST00000290158.4	+	4	801	c.394C>A	c.(394-396)Cag>Aag	p.Q132K	KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000537679.1_5'UTR|KPNB1_ENST00000535458.2_5'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	132					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACTCATTCCTCAGCTGGTGGC	0.488																																						dbGAP											0													160.0	134.0	143.0					17																	45734337		2203	4300	6503	-	-	-	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.394C>A	17.37:g.45734337C>A	ENSP00000290158:p.Gln132Lys		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Nonsense_Mutation	SNP	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_HEAT_type_2	p.S16*	ENST00000290158.4	37	c.47	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657676	0.67586	.	.	ENSG00000108424	ENST00000290158	T	0.68331	-0.32	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	N	0.14661	0.345	0.36918	D	0.891264	B	0.06786	0.001	B	0.04013	0.001	T	0.46119	-0.9214	9	0.17832	T	0.49	-16.9444	20.8794	0.99867	0.0:1.0:0.0:0.0	.	132	Q14974	IMB1_HUMAN	K	132	ENSP00000290158:Q132K	ENSP00000290158:Q132K	Q	+	1	0	KPNB1	43089336	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.796000	0.85898	2.941000	0.99782	0.655000	0.94253	CAG	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.488	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	183	0.00	0	C	NM_002265		45734337	45734337	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000582097	ensembl	human	novel	69_37n	nonsense	64	59.24	93	SNP	1.000	A
KIF19	124602	genome.wustl.edu	37	17	72346876	72346876	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:72346876C>G	ENST00000389916.4	+	12	1557	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	473					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCCGGGCCCTCAAATGGCGGG	0.627																																						dbGAP											0													66.0	63.0	64.0					17																	72346876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1419C>G	17.37:g.72346876C>G			A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L473	ENST00000389916.4	37	c.1419	CCDS32718.2	17																																																																																			KIF19	-	NULL	ENSG00000196169		0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	25	0.00	0	C	NM_153209		72346876	72346876	+1	no_errors	ENST00000389916	ensembl	human	known	69_37n	silent	5	54.55	6	SNP	0.989	G
KRIT1	889	genome.wustl.edu	37	7	91843945	91843945	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:91843945delT	ENST00000340022.2	-	15	2728	c.1710delA	c.(1708-1710)aaafs	p.K570fs	KRIT1_ENST00000394507.1_Frame_Shift_Del_p.K570fs|KRIT1_ENST00000394503.2_Frame_Shift_Del_p.K522fs|KRIT1_ENST00000412043.2_Frame_Shift_Del_p.K570fs|KRIT1_ENST00000394505.2_Frame_Shift_Del_p.K570fs	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	570	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCTTGTGTTTTTTACTCT	0.308																																						dbGAP											0			GRCh37	CD992746	KRIT1	D							81.0	81.0	81.0					7																	91843945		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1710delA	7.37:g.91843945delT	ENSP00000344668:p.Lys570fs		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Frame_Shift_Del	DEL	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.K570fs	ENST00000340022.2	37	c.1710	CCDS5624.1	7																																																																																			KRIT1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000001631		0.308	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	113	0.00	0	T			91843945	91843945	-1	no_errors	ENST00000340022	ensembl	human	known	69_37n	frame_shift_del	102	33.97	53	DEL	1.000	-
KRBA1	84626	genome.wustl.edu	37	7	149427568	149427568	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:149427568C>G	ENST00000485033.2	+	13	1873	c.1873C>G	c.(1873-1875)Cct>Gct	p.P625A	KRBA1_ENST00000319551.8_Missense_Mutation_p.P625A|KRBA1_ENST00000255992.10_Missense_Mutation_p.P685A|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	686	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCCCATGTCCTGGTGGGAC	0.642																																						dbGAP											0													47.0	49.0	48.0					7																	149427568		2033	4159	6192	-	-	-	SO:0001583	missense	0			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1873C>G	7.37:g.149427568C>G	ENSP00000420112:p.Pro625Ala		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.P685A	ENST00000485033.2	37	c.2053		7	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233813	0.39498	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.35421	1.4;1.31;1.31	4.35	1.53	0.23141	.	0.753433	0.11447	N	0.563194	T	0.19644	0.0472	.	.	.	0.09310	N	1	P;B	0.42908	0.793;0.426	B;B	0.35278	0.186;0.199	T	0.09885	-1.0654	9	0.26408	T	0.33	0.0801	5.8871	0.18888	0.0:0.6512:0.0:0.3488	.	625;686	E7ENE9;A5PL33	.;KRBA1_HUMAN	A	685;625;625	ENSP00000255992:P685A;ENSP00000317165:P625A;ENSP00000420112:P625A	ENSP00000255992:P685A	P	+	1	0	KRBA1	149058501	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	0.274000	0.18680	0.122000	0.18314	0.563000	0.77884	CCT	KRBA1	-	NULL	ENSG00000133619		0.642	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	60	0.00	0	C	NM_032534		149427568	149427568	+1	no_errors	ENST00000255992	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	0.000	G
KRT6A	3853	genome.wustl.edu	37	12	52881589	52881589	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:52881589C>T	ENST00000330722.6	-	9	1678	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	537	Tail.				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)		GCTGAGGCCACCCCCAATGGC	0.587																																						dbGAP											0													76.0	85.0	82.0					12																	52881589		2203	4298	6501	-	-	-	SO:0001583	missense	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.1610G>A	12.37:g.52881589C>T	ENSP00000369317:p.Gly537Asp		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G537D	ENST00000330722.6	37	c.1610	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	14.34	2.505736	0.44558	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.90580	0.7047	M	0.83012	2.62	0.32898	D	0.512841	B	0.23058	0.079	B	0.26614	0.071	D	0.89735	0.3929	10	0.24483	T	0.36	.	15.2074	0.73190	0.0:0.7342:0.2658:0.0	.	537	P02538	K2C6A_HUMAN	D	537;493	ENSP00000369317:G537D	ENSP00000369317:G537D	G	-	2	0	KRT6A	51167856	0.001000	0.12720	0.757000	0.31301	0.982000	0.71751	1.093000	0.30939	1.216000	0.43427	0.650000	0.86243	GGT	KRT6A	-	NULL	ENSG00000205420		0.587	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	156	0.00	0	C	NM_005554		52881589	52881589	-1	no_errors	ENST00000330722	ensembl	human	known	69_37n	missense	84	25.66	29	SNP	0.683	T
KRT2	3849	genome.wustl.edu	37	12	53041591	53041591	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:53041591C>G	ENST00000309680.3	-	6	1192	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	391	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ATCTTGATCTCTTTCAGGCTG	0.562																																						dbGAP											0													94.0	69.0	77.0					12																	53041591		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1171G>C	12.37:g.53041591C>G	ENSP00000310861:p.Glu391Gln		Q4VAQ2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E391Q	ENST00000309680.3	37	c.1171	CCDS8835.1	12	.	.	.	.	.	.	.	.	.	.	C	9.275	1.046626	0.19748	.	.	ENSG00000172867	ENST00000309680	T	0.73575	-0.76	4.89	0.568	0.17333	Filament (1);	.	.	.	.	T	0.59280	0.2182	N	0.17838	0.53	0.09310	N	1	P	0.36647	0.563	B	0.43360	0.417	T	0.53697	-0.8402	9	0.59425	D	0.04	.	0.9917	0.01458	0.1375:0.2583:0.2695:0.3346	.	391	P35908	K22E_HUMAN	Q	391	ENSP00000310861:E391Q	ENSP00000310861:E391Q	E	-	1	0	KRT2	51327858	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	0.199000	0.20427	-0.312000	0.09012	GAG	KRT2	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II	ENSG00000172867		0.562	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	73	0.00	0	C	NM_000423		53041591	53041591	-1	no_errors	ENST00000309680	ensembl	human	known	69_37n	missense	65	34.34	34	SNP	0.000	G
KRT18	3875	genome.wustl.edu	37	12	53345518	53345518	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:53345518G>C	ENST00000388835.3	+	5	1036	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000388837.2_Missense_Mutation_p.E276Q|KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000550600.1_Missense_Mutation_p.E276Q	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	276	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCTGCAGATTGAGGAGAGCAC	0.602																																						dbGAP											0													84.0	89.0	87.0					12																	53345518		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.826G>C	12.37:g.53345518G>C	ENSP00000373487:p.Glu276Gln		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E276Q	ENST00000388835.3	37	c.826	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580560	0.65992	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.90069	-2.61;-2.61;-2.61	3.79	3.79	0.43588	Filament (1);	0.097739	0.42053	D	0.000764	D	0.93281	0.7859	M	0.84082	2.675	0.36474	D	0.867427	P;B	0.47191	0.891;0.155	P;B	0.57720	0.826;0.392	D	0.95716	0.8762	10	0.72032	D	0.01	.	13.9277	0.63972	0.0:0.0:1.0:0.0	.	276;276	F8VZY9;P05783	.;K1C18_HUMAN	Q	276	ENSP00000373489:E276Q;ENSP00000447278:E276Q;ENSP00000373487:E276Q	ENSP00000373487:E276Q	E	+	1	0	KRT18	51631785	0.031000	0.19500	1.000000	0.80357	0.792000	0.44763	1.645000	0.37238	2.418000	0.82041	0.491000	0.48974	GAG	KRT18	-	pfam_F	ENSG00000111057		0.602	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	69	0.00	0	G	NM_199187		53345518	53345518	+1	no_errors	ENST00000388835	ensembl	human	known	69_37n	missense	39	42.65	29	SNP	1.000	C
KRTAP13-3	337960	genome.wustl.edu	37	21	31797808	31797808	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:31797808A>T	ENST00000390690.2	-	1	478	c.423T>A	c.(421-423)agT>agA	p.S141R		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	141						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TGGATCTATAACTCTGGGAAG	0.458																																						dbGAP											0													52.0	52.0	52.0					21																	31797808		1949	4188	6137	-	-	-	SO:0001583	missense	0			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.423T>A	21.37:g.31797808A>T	ENSP00000375109:p.Ser141Arg		Q3LI78	Missense_Mutation	SNP	pfam_PMG	p.S141R	ENST00000390690.2	37	c.423	CCDS13591.1	21	.	.	.	.	.	.	.	.	.	.	a	10.35	1.327014	0.24080	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.03860	3.78	4.78	2.76	0.32466	.	0.838795	0.09897	U	0.741507	T	0.04815	0.0130	L	0.39898	1.24	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.42189	-0.9466	10	0.41790	T	0.15	-0.0291	4.2205	0.10556	0.5234:0.0:0.4766:0.0	.	141	Q3SY46	KR133_HUMAN	R	141;131	ENSP00000375109:S141R	ENSP00000375109:S141R	S	-	3	2	KRTAP13-3	30719679	0.004000	0.15560	0.145000	0.22337	0.123000	0.20343	0.145000	0.16157	0.538000	0.28769	0.473000	0.43528	AGT	KRTAP13-3	-	pfam_PMG	ENSG00000240432		0.458	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	HGNC	protein_coding	OTTHUMT00000128228.2	38	0.00	0	A			31797808	31797808	-1	no_errors	ENST00000390690	ensembl	human	known	69_37n	missense	14	60.00	21	SNP	0.227	T
L3MBTL1	26013	genome.wustl.edu	37	20	42164830	42164830	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:42164830G>A	ENST00000427442.2	+	18	2112	c.1953G>A	c.(1951-1953)agG>agA	p.R651R	L3MBTL1_ENST00000418998.1_Silent_p.R651R|L3MBTL1_ENST00000373134.1_Silent_p.R588R|L3MBTL1_ENST00000373135.3_Silent_p.R583R|L3MBTL1_ENST00000444063.1_Silent_p.R583R			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	583					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGGCTGAGAGGAACCAGAGCC	0.617																																						dbGAP											0													22.0	21.0	21.0					20																	42164830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1953G>A	20.37:g.42164830G>A			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,smart_Mbt,pfscan_Mbt	p.G274E	ENST00000427442.2	37	c.821	CCDS46602.2	20	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360922	0.24684	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.56	2.52	0.30459	.	.	.	.	.	T	0.59729	0.2215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	.	10.6237	0.45495	0.2145:0.0:0.7855:0.0	.	.	.	.	E	274	.	.	G	+	2	0	L3MBTL1	41598244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.419000	0.34793	0.390000	0.25115	0.638000	0.83543	GGA	L3MBTL1	-	NULL	ENSG00000185513		0.617	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	22	0.00	0	G	NM_032107		42164830	42164830	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445228	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	A
LCA5L	150082	genome.wustl.edu	37	21	40795031	40795031	+	Silent	SNP	C	C	A	rs145757018		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:40795031C>A	ENST00000358268.2	-	5	1236	c.708G>T	c.(706-708)ctG>ctT	p.L236L	LCA5L_ENST00000380671.2_Silent_p.L236L|LCA5L_ENST00000288350.3_Silent_p.L236L|LCA5L_ENST00000485895.2_Silent_p.L236L			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	236										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTAGTCTTCAGTAACTGGC	0.353																																						dbGAP											0													131.0	131.0	131.0					21																	40795031		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.708G>T	21.37:g.40795031C>A			D3DSI0|Q3ZCT0	Silent	SNP	NULL	p.L236	ENST00000358268.2	37	c.708	CCDS13665.1	21																																																																																			LCA5L	-	NULL	ENSG00000157578		0.353	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	165	0.00	0	C	NM_152505		40795031	40795031	-1	no_errors	ENST00000288350	ensembl	human	known	69_37n	silent	90	50.00	90	SNP	0.115	A
LENG1	79165	genome.wustl.edu	37	19	54663378	54663378	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:54663378C>G	ENST00000222224.3	-	1	242	c.56G>C	c.(55-57)cGc>cCc	p.R19P		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	19										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACGCCGCACGCGGGCGACATT	0.652																																						dbGAP											0													33.0	26.0	29.0					19																	54663378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.56G>C	19.37:g.54663378C>G	ENSP00000222224:p.Arg19Pro		Q9HCU7	Missense_Mutation	SNP	NULL	p.R19P	ENST00000222224.3	37	c.56	CCDS12881.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.314367	0.95655	.	.	ENSG00000105617	ENST00000222224	T	0.66099	-0.19	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88482	0.3069	10	0.87932	D	0	-15.7858	17.1323	0.86729	0.0:1.0:0.0:0.0	.	19	Q96BZ8	LENG1_HUMAN	P	19	ENSP00000222224:R19P	ENSP00000222224:R19P	R	-	2	0	LENG1	59355190	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.617000	0.74210	2.657000	0.90304	0.650000	0.86243	CGC	LENG1	-	NULL	ENSG00000105617		0.652	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG1	HGNC	protein_coding	OTTHUMT00000142159.1	33	0.00	0	C	NM_024316		54663378	54663378	-1	no_errors	ENST00000222224	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	G
LGI2	55203	genome.wustl.edu	37	4	25005603	25005603	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:25005603A>G	ENST00000382114.4	-	8	1293	c.1108T>C	c.(1108-1110)Tgg>Cgg	p.W370R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	370						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)				TCCCTGAACCACTCGTGCAGT	0.493																																						dbGAP											0													109.0	113.0	112.0					4																	25005603		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.1108T>C	4.37:g.25005603A>G	ENSP00000371548:p.Trp370Arg		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.W370R	ENST00000382114.4	37	c.1108	CCDS3431.1	4	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709443	0.68730	.	.	ENSG00000153012	ENST00000382114	T	0.80738	-1.41	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90453	0.4440	10	0.72032	D	0.01	-16.9339	16.2444	0.82434	1.0:0.0:0.0:0.0	.	370	Q8N0V4	LGI2_HUMAN	R	370	ENSP00000371548:W370R	ENSP00000371548:W370R	W	-	1	0	LGI2	24614701	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	9.339000	0.96797	2.233000	0.73108	0.455000	0.32223	TGG	LGI2	-	pfam_EPTP,pfscan_EAR	ENSG00000153012		0.493	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	71	0.00	0	A			25005603	25005603	-1	no_errors	ENST00000382114	ensembl	human	known	69_37n	missense	63	11.11	8	SNP	1.000	G
LRCH2	57631	genome.wustl.edu	37	X	114400488	114400488	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:114400488G>C	ENST00000317135.8	-	8	1144	c.1114C>G	c.(1114-1116)Cat>Gat	p.H372D	LRCH2_ENST00000538422.1_Missense_Mutation_p.H372D	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	372										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACTTGAGAATGAAGGCTGACT	0.338																																						dbGAP											0													93.0	70.0	78.0					X																	114400488		1871	4060	5931	-	-	-	SO:0001583	missense	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1114C>G	X.37:g.114400488G>C	ENSP00000325091:p.His372Asp		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.H372D	ENST00000317135.8	37	c.1114	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253712	0.39797	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.81247	-1.47;5.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82577	0.5067	L	0.44542	1.39	0.80722	D	1	P;D	0.62365	0.808;0.991	P;P	0.57204	0.452;0.815	T	0.78398	-0.2219	10	0.15499	T	0.54	-10.2287	17.2556	0.87055	0.0:0.0:1.0:0.0	.	372;372	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	D	372	ENSP00000325091:H372D;ENSP00000439366:H372D	ENSP00000325091:H372D	H	-	1	0	LRCH2	114306744	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.414000	0.80117	2.391000	0.81399	0.538000	0.68166	CAT	LRCH2	-	NULL	ENSG00000130224		0.338	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	168	0.00	0	G	NM_020871		114400488	114400488	-1	no_errors	ENST00000317135	ensembl	human	known	69_37n	missense	53	51.38	56	SNP	1.000	C
LRP1	4035	genome.wustl.edu	37	12	57593676	57593677	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:57593676_57593677insA	ENST00000243077.3	+	62	10348_10349	c.9882_9883insA	c.(9883-9885)aagfs	p.K3295fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3295	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCACCCCTGCAAGGTCAACAA	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9884dupA	12.37:g.57593678_57593678dupA	ENSP00000243077:p.Lys3295fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V3295fs	ENST00000243077.3	37	c.9882_9883	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt,smart_EGF-like	ENSG00000123384		0.584	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	63	0.00	0	-	NM_002332		57593676	57593677	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_ins	38	13.64	6	INS	1.000:1.000	A
LRP1	4035	genome.wustl.edu	37	12	57594568	57594568	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:57594568T>C	ENST00000243077.3	+	64	10661	c.10195T>C	c.(10195-10197)Tgc>Cgc	p.C3399R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3399	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGACAATGACTGCCAGGACAA	0.602																																						dbGAP											0													92.0	79.0	84.0					12																	57594568		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10195T>C	12.37:g.57594568T>C	ENSP00000243077:p.Cys3399Arg		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C3399R	ENST00000243077.3	37	c.10195	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548277	0.65311	.	.	ENSG00000123384	ENST00000243077	D	0.99186	-5.53	4.84	4.84	0.62591	.	0.134339	0.49916	D	0.000130	D	0.99579	0.9848	H	0.98721	4.31	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.97672	1.0167	10	0.87932	D	0	.	13.8688	0.63605	0.0:0.0:0.0:1.0	.	3399	Q07954	LRP1_HUMAN	R	3399	ENSP00000243077:C3399R	ENSP00000243077:C3399R	C	+	1	0	LRP1	55880835	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.792000	0.85828	2.186000	0.69663	0.454000	0.30748	TGC	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	30	0.00	0	T	NM_002332		57594568	57594568	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141116507	141116507	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:141116507G>A	ENST00000389484.3	-	73	12111	c.11140C>T	c.(11140-11142)Ctt>Ttt	p.L3714F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3714	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L3714I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGGACAAAGAAATTTGACT	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											91.0	86.0	88.0					2																	141116507		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11140C>T	2.37:g.141116507G>A	ENSP00000374135:p.Leu3714Phe		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L3714F	ENST00000389484.3	37	c.11140	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	8.499	0.863913	0.17250	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88277	-2.36	5.46	3.64	0.41730	.	0.236710	0.34932	U	0.003580	D	0.85336	0.5673	L	0.44542	1.39	0.25088	N	0.990876	B	0.19445	0.036	B	0.23574	0.047	T	0.75752	-0.3207	10	0.52906	T	0.07	.	14.4257	0.67215	0.0:0.0:0.7301:0.2699	.	3714	Q9NZR2	LRP1B_HUMAN	F	3714;3652	ENSP00000374135:L3714F	ENSP00000374135:L3714F	L	-	1	0	LRP1B	140832977	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	4.561000	0.60809	0.673000	0.31224	-0.189000	0.12847	CTT	LRP1B	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	114	0.00	0	G	NM_018557		141116507	141116507	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	92	34.29	48	SNP	1.000	A
LRRC8A	56262	genome.wustl.edu	37	9	131669651	131669651	+	Silent	SNP	C	C	A	rs140911584		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:131669651C>A	ENST00000259324.5	+	3	731	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	LRRC8A_ENST00000372600.4_Silent_p.R70R|LRRC8A_ENST00000372599.3_Silent_p.R70R	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	70					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGATTCGTTCCGGGGCTGGGC	0.622																																						dbGAP											0													57.0	57.0	57.0					9																	131669651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.208C>A	9.37:g.131669651C>A			Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R70	ENST00000259324.5	37	c.208	CCDS35155.1	9																																																																																			LRRC8A	-	NULL	ENSG00000136802		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	46	0.00	0	C	NM_019594		131669651	131669651	+1	no_errors	ENST00000259324	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	1.000	A
LRRTM4	80059	genome.wustl.edu	37	2	77745581	77745581	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:77745581C>T	ENST00000409093.1	-	3	1750	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	LRRTM4_ENST00000409282.1_Missense_Mutation_p.E473K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E472K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E473K|LRRTM4_ENST00000409088.3_Missense_Mutation_p.E472K			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	472					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTTTCAGACTCTCTGGCCTTT	0.463																																						dbGAP											0													80.0	79.0	79.0					2																	77745581		1900	4130	6030	-	-	-	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1414G>A	2.37:g.77745581C>T	ENSP00000386357:p.Glu472Lys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E473K	ENST00000409093.1	37	c.1417	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378883	0.42207	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.68	5.68	0.88126	.	0.049730	0.85682	D	0.000000	T	0.75184	0.3815	L	0.52364	1.645	0.58432	D	0.999996	B;B;B	0.26512	0.058;0.095;0.151	B;B;B	0.25140	0.017;0.058;0.032	T	0.72437	-0.4294	10	0.54805	T	0.06	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	473;472;472	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	K	473;472;472;472;473	ENSP00000387228:E473K;ENSP00000387297:E472K;ENSP00000386357:E472K;ENSP00000386236:E472K;ENSP00000386286:E473K	ENSP00000386236:E472K	E	-	1	0	LRRTM4	77599089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.670000	0.90874	0.655000	0.94253	GAG	LRRTM4	-	NULL	ENSG00000176204		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	83	0.00	0	C	NM_024993		77745581	77745581	-1	no_errors	ENST00000409911	ensembl	human	known	69_37n	missense	58	37.63	35	SNP	1.000	T
LSG1	55341	genome.wustl.edu	37	3	194379779	194379779	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:194379779C>G	ENST00000265245.5	-	7	980	c.666G>C	c.(664-666)cgG>cgC	p.R222R		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	222	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CCCAGGCACTCCGCTGCTCAG	0.468																																						dbGAP											0													158.0	166.0	163.0					3																	194379779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.666G>C	3.37:g.194379779C>G			A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.R222	ENST00000265245.5	37	c.666	CCDS33922.1	3																																																																																			LSG1	-	NULL	ENSG00000041802		0.468	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	42	0.00	0	C	NM_018385		194379779	194379779	-1	no_errors	ENST00000265245	ensembl	human	known	69_37n	silent	22	37.14	13	SNP	0.019	G
LTK	4058	genome.wustl.edu	37	15	41796393	41796393	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:41796393G>A	ENST00000263800.6	-	20	2492	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L	LTK_ENST00000561619.1_Missense_Mutation_p.P497L|LTK_ENST00000453182.2_Missense_Mutation_p.P669L|LTK_ENST00000355166.5_Missense_Mutation_p.P738L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	799					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TTCCTCCTCTGGGGTGGGCCC	0.582										TSP Lung(18;0.14)																												dbGAP											0													31.0	35.0	34.0					15																	41796393		2202	4300	6502	-	-	-	SO:0001583	missense	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2396C>T	15.37:g.41796393G>A	ENSP00000263800:p.Pro799Leu		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P799L	ENST00000263800.6	37	c.2396	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	G	1.945	-0.442581	0.04604	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.76448	-1.02;-0.77;0.13	4.34	1.96	0.26148	.	1.237920	0.06529	N	0.741078	T	0.48732	0.1516	N	0.01874	-0.695	0.21473	N	0.999675	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.38243	-0.9670	10	0.16420	T	0.52	.	3.3296	0.07079	0.5215:0.2085:0.27:0.0	.	669;669;738;799	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	L	738;799;669	ENSP00000347293:P738L;ENSP00000263800:P799L;ENSP00000392196:P669L	ENSP00000263800:P799L	P	-	2	0	LTK	39583685	0.057000	0.20700	0.010000	0.14722	0.030000	0.12068	1.274000	0.33132	0.284000	0.22305	-0.302000	0.09304	CCA	LTK	-	NULL	ENSG00000062524		0.582	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	26	0.00	0	G			41796393	41796393	-1	no_errors	ENST00000263800	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.462	A
MAEL	84944	genome.wustl.edu	37	1	166974320	166974320	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:166974320A>T	ENST00000367872.4	+	7	900	c.656A>T	c.(655-657)gAt>gTt	p.D219V	MAEL_ENST00000367870.2_Missense_Mutation_p.D188V|MAEL_ENST00000491055.1_3'UTR|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	219					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAGTCTGATGATAGAACCAGA	0.353																																						dbGAP											0													58.0	60.0	59.0					1																	166974320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.656A>T	1.37:g.166974320A>T	ENSP00000356846:p.Asp219Val		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.D219V	ENST00000367872.4	37	c.656	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729142	0.69074	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.50001	0.76;0.76;0.8	5.98	4.86	0.63082	.	0.000000	0.64402	D	0.000002	T	0.41811	0.1175	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.77557	0.986;0.99	T	0.50676	-0.8800	10	0.72032	D	0.01	.	9.8342	0.40960	0.9215:0.0:0.0785:0.0	.	188;219	E9JVC3;Q96JY0	.;MAEL_HUMAN	V	219;188;188	ENSP00000356846:D219V;ENSP00000356844:D188V;ENSP00000402143:D188V	ENSP00000356844:D188V	D	+	2	0	MAEL	165240944	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	5.110000	0.64622	1.089000	0.41292	0.482000	0.46254	GAT	MAEL	-	superfamily_CH-domain	ENSG00000143194		0.353	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	69	0.00	0	A	NM_032858		166974320	166974320	+1	no_errors	ENST00000367872	ensembl	human	known	69_37n	missense	53	32.05	25	SNP	1.000	T
MAGI1	9223	genome.wustl.edu	37	3	65349175	65349175	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:65349175C>T	ENST00000497477.2	-	20	3258	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	MAGI1_ENST00000330909.8_Missense_Mutation_p.E1182K|MAGI1_ENST00000402939.2_Missense_Mutation_p.E1154K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E1183K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1183					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGACCGTCCTCTGCTAAGCGC	0.493																																						dbGAP											0													231.0	238.0	236.0					3																	65349175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3259G>A	3.37:g.65349175C>T	ENSP00000424369:p.Glu1087Lys		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E1154K	ENST00000497477.2	37	c.3460		3	.	.	.	.	.	.	.	.	.	.	C	36	5.688680	0.96784	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.39085	1.19	0.80722	D	1	D;D;P;D	0.76494	0.995;0.999;0.917;0.999	D;D;P;D	0.85130	0.942;0.997;0.847;0.991	T	0.52087	-0.8622	10	0.41790	T	0.15	-35.4437	20.0396	0.97574	0.0:1.0:0.0:0.0	.	1087;1183;1154;1182	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	K	1154;1182;1078;1058;1183;1087;941	ENSP00000385450:E1154K;ENSP00000331157:E1182K;ENSP00000418177:E1058K;ENSP00000420323:E1183K;ENSP00000424369:E1087K;ENSP00000420796:E941K	ENSP00000331157:E1182K	E	-	1	0	MAGI1	65324215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.814000	0.96858	0.563000	0.77884	GAG	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.493	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	39	0.00	0	C	NM_004742		65349175	65349175	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	10	67.74	21	SNP	1.000	T
MAN1A1	4121	genome.wustl.edu	37	6	119510960	119510960	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:119510960C>T	ENST00000368468.3	-	10	1856	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	472					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGTCAGGTGGCCCATCTTGTG	0.567																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													85.0	80.0	82.0					6																	119510960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1415G>A	6.37:g.119510960C>T	ENSP00000357453:p.Gly472Asp		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G472D	ENST00000368468.3	37	c.1415	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253845	0.80135	.	.	ENSG00000111885	ENST00000368468	T	0.68624	-0.34	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	N	0.02916	-0.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53136	-0.8481	10	0.02654	T	1	-19.4134	19.4267	0.94743	0.0:1.0:0.0:0.0	.	472	P33908	MA1A1_HUMAN	D	472	ENSP00000357453:G472D	ENSP00000357453:G472D	G	-	2	0	MAN1A1	119552659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.596000	0.87737	0.655000	0.94253	GGC	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000111885		0.567	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	50	0.00	0	C	NM_005907		119510960	119510960	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	1.000	T
MAP1S	55201	genome.wustl.edu	37	19	17844161	17844161	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:17844161A>G	ENST00000324096.4	+	6	3099	c.2948A>G	c.(2947-2949)cAg>cGg	p.Q983R	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.Q957R	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	983	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGCCAGGACCAGCGCAAGGAG	0.677																																						dbGAP											0													43.0	32.0	36.0					19																	17844161		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2948A>G	19.37:g.17844161A>G	ENSP00000325313:p.Gln983Arg		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.Q983R	ENST00000324096.4	37	c.2948	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.625481	0.00820	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20332	2.08;2.08	4.63	1.25	0.21368	.	0.292616	0.24669	N	0.036563	T	0.16854	0.0405	L	0.47716	1.5	0.19945	N	0.999942	P;B	0.51351	0.944;0.002	P;B	0.48189	0.57;0.003	T	0.12734	-1.0536	10	0.15066	T	0.55	-29.4164	1.9755	0.03415	0.4342:0.3203:0.0906:0.155	.	957;983	B4DH53;Q66K74	.;MAP1S_HUMAN	R	983;957	ENSP00000325313:Q983R;ENSP00000439243:Q957R	ENSP00000325313:Q983R	Q	+	2	0	MAP1S	17705161	0.011000	0.17503	0.136000	0.22124	0.000000	0.00434	0.820000	0.27323	-0.125000	0.11703	-2.085000	0.00377	CAG	MAP1S	-	NULL	ENSG00000130479		0.677	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	41	0.00	0	A	NM_018174		17844161	17844161	+1	no_errors	ENST00000324096	ensembl	human	known	69_37n	missense	9	44.44	8	SNP	0.294	G
MAP3K2	10746	genome.wustl.edu	37	2	128075321	128075321	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:128075321C>T	ENST00000409947.1	-	14	1492	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	RNU6-1147P_ENST00000363380.1_RNA|MAP3K2_ENST00000344908.5_Missense_Mutation_p.E404K			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	ATTTCACACTCAAGTGCATTT	0.353																																						dbGAP											0													54.0	52.0	53.0					2																	128075321		1841	4091	5932	-	-	-	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1210G>A	2.37:g.128075321C>T	ENSP00000387246:p.Glu404Lys		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E404K	ENST00000409947.1	37	c.1210	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209281	0.79240	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.23950	1.88;1.88	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	N	0.12887	0.27	0.80722	D	1	P	0.41978	0.767	B	0.41135	0.348	T	0.03130	-1.1069	10	0.23891	T	0.37	.	20.3523	0.98815	0.0:1.0:0.0:0.0	.	404	Q9Y2U5	M3K2_HUMAN	K	404	ENSP00000387246:E404K;ENSP00000343463:E404K	ENSP00000343463:E404K	E	-	1	0	MAP3K2	127791791	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	7.734000	0.84928	2.821000	0.97095	0.484000	0.47621	GAG	MAP3K2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000169967		0.353	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	74	0.00	0	C	NM_006609		128075321	128075321	-1	no_errors	ENST00000344908	ensembl	human	known	69_37n	missense	60	40.00	40	SNP	1.000	T
MAP4K2	5871	genome.wustl.edu	37	11	64567840	64567840	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:64567840G>C	ENST00000294066.2	-	11	841	c.750C>G	c.(748-750)ctC>ctG	p.L250L	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Silent_p.L250L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGCCAGTTTGAGAAAGTGGT	0.602																																						dbGAP											0													60.0	63.0	62.0					11																	64567840		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.750C>G	11.37:g.64567840G>C			Q86VU3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L250	ENST00000294066.2	37	c.750	CCDS8082.1	11																																																																																			MAP4K2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000168067		0.602	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	43	0.00	0	G	NM_004579		64567840	64567840	-1	no_errors	ENST00000294066	ensembl	human	known	69_37n	silent	9	62.50	15	SNP	1.000	C
MAP7	9053	genome.wustl.edu	37	6	136687005	136687005	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:136687005C>G	ENST00000354570.3	-	10	1551	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	MAP7_ENST00000454590.1_Missense_Mutation_p.E403Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E366Q|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000438100.2_Missense_Mutation_p.E366Q|MAP7_ENST00000432797.2_Missense_Mutation_p.E235Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	381	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTTTCTTCTCAGGCTCCACT	0.552																																						dbGAP											0													78.0	82.0	81.0					6																	136687005		2203	4300	6503	-	-	-	SO:0001583	missense	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1141G>C	6.37:g.136687005C>G	ENSP00000346581:p.Glu381Gln		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_E-MAP-115	p.E403Q	ENST00000354570.3	37	c.1207	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012000	0.54468	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.15952	2.38;2.39;2.38;2.39;2.38	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.28167	0.0695	M	0.61703	1.905	0.41135	D	0.985918	D;D;D;D;D;D;D	0.67145	0.993;0.993;0.996;0.993;0.992;0.996;0.993	P;P;P;P;P;P;P	0.61658	0.722;0.722;0.856;0.722;0.801;0.892;0.722	T	0.00540	-1.1681	10	0.42905	T	0.14	-11.7327	17.718	0.88343	0.0:1.0:0.0:0.0	.	366;403;366;403;287;344;381	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	Q	381;403;366;366;235;287	ENSP00000346581:E381Q;ENSP00000414712:E403Q;ENSP00000445737:E366Q;ENSP00000400790:E366Q;ENSP00000414879:E235Q	ENSP00000344217:E287Q	E	-	1	0	MAP7	136728698	0.990000	0.36364	0.901000	0.35422	0.880000	0.50808	3.094000	0.50227	2.626000	0.88956	0.650000	0.86243	GAG	MAP7	-	NULL	ENSG00000135525		0.552	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	70	0.00	0	C	NM_003980		136687005	136687005	-1	no_errors	ENST00000454590	ensembl	human	known	69_37n	missense	31	67.37	64	SNP	0.993	G
MAPK15	225689	genome.wustl.edu	37	8	144800433	144800433	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:144800433G>C	ENST00000338033.4	+	4	366	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	MAPK15_ENST00000395108.2_Missense_Mutation_p.E83Q|MAPK15_ENST00000395107.4_Missense_Mutation_p.E83Q|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCGGGCAGAGAACGACAG	0.622																																						dbGAP											0													70.0	56.0	61.0					8																	144800433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.247G>C	8.37:g.144800433G>C	ENSP00000337691:p.Glu83Gln		Q2TCF9|Q8N362	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E83Q	ENST00000338033.4	37	c.247	CCDS6409.2	8	.	.	.	.	.	.	.	.	.	.	g	12.84	2.057914	0.36277	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.44083	0.93;0.93;0.93	5.31	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.267245	0.37053	N	0.002275	T	0.34135	0.0887	L	0.39245	1.2	0.22701	N	0.99884	B	0.21452	0.056	B	0.32090	0.14	T	0.24476	-1.0159	10	0.30854	T	0.27	.	7.4789	0.27393	0.0918:0.2785:0.6298:0.0	.	83	Q8TD08	MK15_HUMAN	Q	83	ENSP00000337691:E83Q;ENSP00000378539:E83Q;ENSP00000378540:E83Q	ENSP00000337691:E83Q	E	+	1	0	MAPK15	144872421	0.967000	0.33354	0.717000	0.30585	0.547000	0.35210	2.001000	0.40825	1.222000	0.43521	0.511000	0.50034	GAG	MAPK15	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000181085		0.622	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	26	0.00	0	G	NM_139021		144800433	144800433	+1	no_errors	ENST00000338033	ensembl	human	known	69_37n	missense	3	76.92	10	SNP	0.918	C
MAST4	375449	genome.wustl.edu	37	5	66459594	66459594	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:66459594C>T	ENST00000403625.2	+	29	4882	c.4587C>T	c.(4585-4587)cgC>cgT	p.R1529R	MAST4_ENST00000404260.3_Silent_p.R1532R|MAST4_ENST00000261569.7_Silent_p.R1335R|MAST4_ENST00000403666.1_Silent_p.R1340R|MAST4_ENST00000405643.1_Silent_p.R1350R	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1532						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACCTGGACCGCGACAAGCTGA	0.627																																						dbGAP											0													15.0	17.0	16.0					5																	66459594		2015	4175	6190	-	-	-	SO:0001819	synonymous_variant	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4587C>T	5.37:g.66459594C>T			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R586*	ENST00000403625.2	37	c.1756	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968448	0.18659	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.25	-0.687	0.11320	.	0.085887	0.40302	N	0.001122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2238	1.5027	0.02480	0.4007:0.1488:0.3151:0.1354	.	.	.	.	X	586	.	ENSP00000400551:R586X	R	+	1	2	MAST4	66495350	0.197000	0.23362	0.993000	0.49108	0.952000	0.60782	-0.359000	0.07632	-0.260000	0.09418	-0.165000	0.13383	CGA	MAST4	-	NULL	ENSG00000069020		0.627	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	14	0.00	0	C			66459594	66459594	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443808	ensembl	human	novel	69_37n	nonsense	11	38.89	7	SNP	0.993	T
MAZ	4150	genome.wustl.edu	37	16	29818053	29818054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:29818053_29818054insC	ENST00000322945.6	+	1	196_197	c.31_32insC	c.(31-33)gccfs	p.A11fs	MAZ_ENST00000566906.2_Frame_Shift_Ins_p.A11fs|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000569978.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Frame_Shift_Ins_p.A11fs|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000219782.6_Frame_Shift_Ins_p.A11fs|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Frame_Shift_Ins_p.A11fs|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	11					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CACGCTGCTGGCCCCCCCCTTC	0.777																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.39dupC	16.37:g.29818061_29818061dupC	ENSP00000313362:p.Ala11fs		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F14fs	ENST00000322945.6	37	c.31_32	CCDS42143.1	16																																																																																			MAZ	-	NULL	ENSG00000103495		0.777	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	22	0.00	0	-	NM_002383		29818053	29818054	+1	no_errors	ENST00000219782	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.017:0.006	C
MAZ	4150	genome.wustl.edu	37	16	29819914	29819914	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:29819914G>A	ENST00000322945.6	+	4	1296	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000569978.1_5'UTR|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_5'UTR|MAZ_ENST00000219782.6_Silent_p.T377T|MAZ_ENST00000545521.1_Silent_p.T354T|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Silent_p.T72T|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	377					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTCGCCACGAAGGATCGGC	0.592																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													23.0	26.0	25.0					16																	29819914		2062	4199	6261	-	-	-	SO:0001819	synonymous_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1131G>A	16.37:g.29819914G>A			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E48K	ENST00000322945.6	37	c.142	CCDS42143.1	16																																																																																			MAZ	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103495		0.592	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	32	0.00	0	G	NM_002383		29819914	29819914	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000568411	ensembl	human	putative	69_37n	missense	17	43.33	13	SNP	1.000	A
MBOAT7	79143	genome.wustl.edu	37	19	54677970	54677970	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:54677970T>C	ENST00000245615.1	-	8	1667	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	MBOAT7_ENST00000431666.2_Missense_Mutation_p.D323G|MBOAT7_ENST00000338624.6_Missense_Mutation_p.D323G|TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	396					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGCACCCAGTCCCAGGCCTT	0.662																																					NSCLC(97;826 2151 10470 22540)	dbGAP											0													114.0	114.0	114.0					19																	54677970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1187A>G	19.37:g.54677970T>C	ENSP00000245615:p.Asp396Gly		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.D396G	ENST00000245615.1	37	c.1187	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	t	25.9	4.684620	0.88639	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.73152	-0.72;-0.72;-0.72	4.88	4.88	0.63580	.	0.204857	0.49305	D	0.000141	T	0.79347	0.4430	M	0.64997	1.995	0.80722	D	1	D;D;P	0.63046	0.973;0.992;0.928	P;P;P	0.61132	0.853;0.884;0.61	T	0.80739	-0.1248	10	0.52906	T	0.07	-24.8373	13.8165	0.63295	0.0:0.0:0.0:1.0	.	378;323;396	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	G	323;323;396	ENSP00000410503:D323G;ENSP00000344377:D323G;ENSP00000245615:D396G	ENSP00000245615:D396G	D	-	2	0	MBOAT7	59369782	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.361000	0.66092	1.974000	0.57490	0.450000	0.29827	GAC	MBOAT7	-	pfam_MBOAT_fam	ENSG00000125505		0.662	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	63	0.00	0	T	NM_024298		54677970	54677970	-1	no_errors	ENST00000245615	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	C
MDGA1	266727	genome.wustl.edu	37	6	37611585	37611585	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:37611585C>T	ENST00000434837.3	-	14	3714	c.2536G>A	c.(2536-2538)Ggc>Agc	p.G846S	MDGA1_ENST00000505425.1_Splice_Site_p.G846S|MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000297153.7_Splice_Site_p.G850S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	846	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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						CCCAACTCACCGATGTGTTTC	0.597																																						dbGAP											0													82.0	84.0	83.0					6																	37611585		2055	4196	6251	-	-	-	SO:0001630	splice_region_variant	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.2536+1G>A	6.37:g.37611585C>T			A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.G850S	ENST00000434837.3	37	c.2548	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699861	0.68501	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.03065	4.06;4.06;4.06	5.56	3.77	0.43336	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.48767	D	0.000164	T	0.09686	0.0238	M	0.86573	2.825	0.47153	D	0.99933	D;D	0.71674	0.997;0.998	P;D	0.67725	0.833;0.953	T	0.00970	-1.1496	9	.	.	.	.	8.518	0.33257	0.1513:0.7716:0.0:0.0771	.	846;846	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	S	846;850;846	ENSP00000402584:G846S;ENSP00000297153:G850S;ENSP00000422042:G846S	.	G	-	1	0	MDGA1	37719563	1.000000	0.71417	0.864000	0.33941	0.455000	0.32408	7.398000	0.79919	0.702000	0.31825	-0.182000	0.12963	GGC	MDGA1	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000112139		0.597	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	84	0.00	0	C		Missense_Mutation	37611585	37611585	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	missense	17	70.69	41	SNP	0.991	T
MDH1	4190	genome.wustl.edu	37	2	63822565	63822565	+	Silent	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:63822565T>C	ENST00000233114.8	+	3	546	c.111T>C	c.(109-111)atT>atC	p.I37I	MDH1_ENST00000539945.1_Silent_p.I55I|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000544381.1_Intron|MDH1_ENST00000394423.1_Silent_p.I37I	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	37					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						AGCCTATAATTCTTGTGCTGT	0.443																																						dbGAP											0													149.0	123.0	132.0					2																	63822565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.111T>C	2.37:g.63822565T>C			B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Silent	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	p.I55	ENST00000233114.8	37	c.165	CCDS1874.1	2																																																																																			MDH1	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	ENSG00000014641		0.443	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH1	HGNC	protein_coding	OTTHUMT00000251687.1	99	0.00	0	T			63822565	63822565	+1	no_errors	ENST00000539945	ensembl	human	known	69_37n	silent	92	13.21	14	SNP	1.000	C
ME2	4200	genome.wustl.edu	37	18	48473521	48473521	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:48473521A>T	ENST00000321341.5	+	16	1994	c.1722A>T	c.(1720-1722)gaA>gaT	p.E574D	ME2_ENST00000382927.3_3'UTR|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	574					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		AATGGCCAGAATCTGCATCAA	0.438																																						dbGAP											0													115.0	112.0	113.0					18																	48473521		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1722A>T	18.37:g.48473521A>T	ENSP00000321070:p.Glu574Asp		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.E574D	ENST00000321341.5	37	c.1722	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700353	0.48307	.	.	ENSG00000082212	ENST00000321341	T	0.17854	2.25	5.65	-7.41	0.01392	NAD(P)-binding domain (1);	0.202861	0.50627	N	0.000102	T	0.10337	0.0253	L	0.52011	1.625	0.19300	N	0.99997	B	0.06786	0.001	B	0.11329	0.006	T	0.11179	-1.0598	10	0.45353	T	0.12	-13.3037	5.1913	0.15210	0.361:0.0993:0.4422:0.0974	.	574	P23368	MAOM_HUMAN	D	574	ENSP00000321070:E574D	ENSP00000321070:E574D	E	+	3	2	ME2	46727519	0.011000	0.17503	0.001000	0.08648	0.215000	0.24574	-0.111000	0.10807	-1.196000	0.02676	0.374000	0.22700	GAA	ME2	-	NULL	ENSG00000082212		0.438	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	93	0.00	0	A	NM_002396		48473521	48473521	+1	no_errors	ENST00000321341	ensembl	human	known	69_37n	missense	28	50.00	28	SNP	0.000	T
MED13	9969	genome.wustl.edu	37	17	60033733	60033733	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:60033733G>A	ENST00000397786.2	-	24	5666	c.5590C>T	c.(5590-5592)Cgt>Tgt	p.R1864C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1864					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCCTAGACGACCAATTACA	0.358																																						dbGAP											0													148.0	141.0	143.0					17																	60033733		1838	4086	5924	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5590C>T	17.37:g.60033733G>A	ENSP00000380888:p.Arg1864Cys		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1864C	ENST00000397786.2	37	c.5590	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975091	0.92919	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.88431	-2.38	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95905	0.8918	10	0.87932	D	0	-4.2764	19.0103	0.92870	0.0:0.0:1.0:0.0	.	1864	Q9UHV7	MED13_HUMAN	C	1864;1863	ENSP00000380888:R1864C	ENSP00000262436:R1863C	R	-	1	0	MED13	57388515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.426000	0.97469	2.494000	0.84150	0.563000	0.77884	CGT	MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.358	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	133	0.00	0	G	NM_005121		60033733	60033733	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	98	17.65	21	SNP	1.000	A
MED13	9969	genome.wustl.edu	37	17	60050231	60050231	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:60050231G>A	ENST00000397786.2	-	17	3900	c.3824C>T	c.(3823-3825)tCa>tTa	p.S1275L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1275					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATATCCTGTGAGCACTGCAT	0.363																																						dbGAP											0													177.0	169.0	172.0					17																	60050231		1856	4102	5958	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3824C>T	17.37:g.60050231G>A	ENSP00000380888:p.Ser1275Leu		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S1275L	ENST00000397786.2	37	c.3824	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.223639	0.95139	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.71934	-0.61	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84844	0.5562	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.85486	0.1182	10	0.87932	D	0	-30.8758	20.099	0.97865	0.0:0.0:1.0:0.0	.	1275	Q9UHV7	MED13_HUMAN	L	1275;1274	ENSP00000380888:S1275L	ENSP00000262436:S1274L	S	-	2	0	MED13	57405013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.752000	0.94435	0.655000	0.94253	TCA	MED13	-	NULL	ENSG00000108510		0.363	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	109	0.00	0	G	NM_005121		60050231	60050231	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	46	42.50	34	SNP	1.000	A
MED13L	23389	genome.wustl.edu	37	12	116457647	116457649	+	In_Frame_Del	DEL	TTC	TTC	-	rs182740948		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:116457647_116457649delTTC	ENST00000281928.3	-	6	960_962	c.754_756delGAA	c.(754-756)gaadel	p.E252del		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	252						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTCTTTCGATTCTTCTTTCTTT	0.409																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.754_756delGAA	12.37:g.116457650_116457652delTTC	ENSP00000281928:p.Glu252del		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	In_Frame_Del	DEL	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E252in_frame_del	ENST00000281928.3	37	c.756_754	CCDS9177.1	12																																																																																			MED13L	-	pfam_Mediator_Med13_N_met/fun	ENSG00000123066		0.409	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	186	0.00	0	TTC			116457647	116457649	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	in_frame_del	149	26.34	54	DEL	0.129:0.665:0.695	-
MEF2C	4208	genome.wustl.edu	37	5	88026048	88026048	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:88026048C>T	ENST00000437473.2	-	8	1231	c.814G>A	c.(814-816)Gag>Aag	p.E272K	MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000506554.1_Missense_Mutation_p.E272K|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514015.1_Missense_Mutation_p.E272K|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.E272K|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000503554.1_5'Flank	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	272	Beta domain.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCGACATCCTCAGACTGAGAG	0.398										HNSCC(66;0.2)																												dbGAP											0													56.0	55.0	55.0					5																	88026048		1920	4128	6048	-	-	-	SO:0001583	missense	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.814G>A	5.37:g.88026048C>T	ENSP00000396219:p.Glu272Lys		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.E272K	ENST00000437473.2	37	c.814	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108848	0.56398	.	.	ENSG00000081189	ENST00000514028;ENST00000437473;ENST00000506554;ENST00000514015	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.77	5.77	0.91146	.	.	.	.	.	T	0.44244	0.1284	L	0.43923	1.385	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.11299	-1.0593	9	0.52906	T	0.07	.	19.9923	0.97371	0.0:1.0:0.0:0.0	.	272	Q06413	MEF2C_HUMAN	K	272	ENSP00000426665:E272K;ENSP00000396219:E272K;ENSP00000425636:E272K;ENSP00000424606:E272K	ENSP00000396219:E272K	E	-	1	0	MEF2C	88061804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.729000	0.93468	0.585000	0.79938	GAG	MEF2C	-	NULL	ENSG00000081189		0.398	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	76	0.00	0	C	NM_002397		88026048	88026048	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	41989020	41989020	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:41989020G>A	ENST00000570161.1	+	2	1812	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	MGA_ENST00000389936.4_Silent_p.Q604Q|MGA_ENST00000566586.1_Silent_p.Q604Q|MGA_ENST00000545763.1_Silent_p.Q604Q|MGA_ENST00000219905.7_Silent_p.Q604Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGCTAATCAGAATGCCTCTC	0.428																																						dbGAP											0													26.0	24.0	25.0					15																	41989020		1887	4126	6013	-	-	-	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1812G>A	15.37:g.41989020G>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.Q604	ENST00000570161.1	37	c.1812	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	36	0.00	0	G	NM_001164273.1		41989020	41989020	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	silent	11	57.69	15	SNP	0.090	A
MGAM	8972	genome.wustl.edu	37	7	141755406	141755406	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:141755406C>T	ENST00000549489.2	+	28	3458	c.3363C>T	c.(3361-3363)cgC>cgT	p.R1121R	MGAM_ENST00000475668.2_Silent_p.R1121R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1121	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTATCCGCATCTCCACCC	0.473																																						dbGAP											0													148.0	136.0	140.0					7																	141755406		1928	4137	6065	-	-	-	SO:0001819	synonymous_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3363C>T	7.37:g.141755406C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R1121	ENST00000549489.2	37	c.3363	CCDS47727.1	7																																																																																			MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.473	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	175	0.00	0	C			141755406	141755406	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	silent	145	39.83	96	SNP	0.983	T
MICAL3	57553	genome.wustl.edu	37	22	18314825	18314827	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:18314825_18314827delCTC	ENST00000441493.2	-	21	3200_3202	c.2848_2850delGAG	c.(2848-2850)gagdel	p.E950del		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	950	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCAGGCGAGGctcctcctcctcc	0.557																																						dbGAP											0										113,3533		2,109,1712						1.8	0.5			25	286,7086		1,284,3401	no	coding	MICAL3	NM_015241.2		3,393,5113	A1A1,A1R,RR		3.8795,3.0993,3.6213				399,10619				-	-	-	SO:0001651	inframe_deletion	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2848_2850delGAG	22.37:g.18314834_18314836delCTC	ENSP00000416015:p.Glu950del		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E950in_frame_del	ENST00000441493.2	37	c.2850_2848	CCDS46659.1	22																																																																																			MICAL3	-	NULL	ENSG00000243156		0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	51	0.00	0	CTC			18314825	18314827	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	in_frame_del	44	10.20	5	DEL	0.639:0.995:1.000	-
MKKS	8195	genome.wustl.edu	37	20	10393434	10393434	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:10393434G>A	ENST00000347364.3	-	3	1491	c.729C>T	c.(727-729)ctC>ctT	p.L243L	MKKS_ENST00000399054.2_Silent_p.L243L	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	243	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTGTACAAAAGAGTGCCACCT	0.423																																					Melanoma(79;1979 2212 6640)	dbGAP											0													107.0	106.0	106.0					20																	10393434		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.729C>T	20.37:g.10393434G>A			A8K7B0|D3DW18	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L243	ENST00000347364.3	37	c.729	CCDS13111.1	20																																																																																			MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.423	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	118	0.00	0	G			10393434	10393434	-1	no_errors	ENST00000347364	ensembl	human	known	69_37n	silent	103	33.12	51	SNP	1.000	A
MKNK2	2872	genome.wustl.edu	37	19	2039659	2039659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:2039659delC	ENST00000591601.1	-	13	1386	c.1351delG	c.(1351-1353)gccfs	p.A451fs	MKNK2_ENST00000250896.3_Frame_Shift_Del_p.A451fs|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000541165.1_Frame_Shift_Del_p.A320fs			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	451					cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GACAGACTGGCCCTTTGCCGC	0.667																																						dbGAP											0													27.0	27.0	27.0					19																	2039659		2199	4297	6496	-	-	-	SO:0001589	frameshift_variant	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1351delG	19.37:g.2039659delC	ENSP00000467811:p.Ala451fs		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A451fs	ENST00000591601.1	37	c.1351	CCDS12080.1	19																																																																																			MKNK2	-	NULL	ENSG00000099875		0.667	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	39	0.00	0	C	NM_199054		2039659	2039659	-1	no_errors	ENST00000250896	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	1.000	-
MLH3	27030	genome.wustl.edu	37	14	75514822	75514822	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:75514822G>C	ENST00000556740.1	-	1	1572	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	MLH3_ENST00000355774.2_Missense_Mutation_p.Q513E|MLH3_ENST00000238662.7_Missense_Mutation_p.Q513E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.Q513E|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	513					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATGGTGTCTGAAAAGGGCTT	0.373								Mismatch excision repair (MMR)																														dbGAP											0													75.0	78.0	77.0					14																	75514822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1537C>G	14.37:g.75514822G>C	ENSP00000452316:p.Gln513Glu		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.Q513E	ENST00000556740.1	37	c.1537	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	G	0.206	-1.040324	0.02013	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.81	3.84	0.44239	.	0.879373	0.09857	N	0.746736	T	0.33235	0.0856	M	0.67953	2.075	0.21105	N	0.999783	B;B	0.33549	0.417;0.19	B;B	0.28011	0.085;0.036	T	0.14980	-1.0453	10	0.18710	T	0.47	-0.4697	9.8367	0.40973	0.109:0.0:0.891:0.0	.	513;513	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	E	513	ENSP00000348020:Q513E;ENSP00000238662:Q513E;ENSP00000451540:Q513E;ENSP00000452316:Q513E	ENSP00000238662:Q513E	Q	-	1	0	MLH3	74584575	0.332000	0.24722	0.091000	0.20842	0.038000	0.13279	1.843000	0.39259	2.499000	0.84300	0.585000	0.79938	CAG	MLH3	-	NULL	ENSG00000119684		0.373	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	79	0.00	0	G	NM_014381		75514822	75514822	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	75	34.21	39	SNP	0.094	C
MMEL1	79258	genome.wustl.edu	37	1	2524347	2524347	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:2524347C>G	ENST00000378412.3	-	20	2087	c.1926G>C	c.(1924-1926)caG>caC	p.Q642H	MMEL1_ENST00000288709.6_Missense_Mutation_p.Q633H|MMEL1_ENST00000502556.1_Missense_Mutation_p.Q485H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	642						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCCGGAAGTGCTGGGTGGAGA	0.602																																						dbGAP											0													131.0	107.0	115.0					1																	2524347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1926G>C	1.37:g.2524347C>G	ENSP00000367668:p.Gln642His		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Q642H	ENST00000378412.3	37	c.1926	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568146	0.13560	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90444	-2.67;-2.67;-2.67	4.76	0.424	0.16468	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.517413	0.21573	N	0.072379	D	0.84275	0.5436	L	0.47716	1.5	0.27643	N	0.947651	B	0.11235	0.004	B	0.18263	0.021	T	0.75342	-0.3351	10	0.66056	D	0.02	-14.18	5.4273	0.16433	0.1328:0.5329:0.2581:0.0762	.	642	Q495T6	MMEL1_HUMAN	H	485;633;642;485	ENSP00000288709:Q633H;ENSP00000367668:Q642H;ENSP00000422492:Q485H	ENSP00000288709:Q633H	Q	-	3	2	MMEL1	2514207	0.067000	0.21026	0.770000	0.31555	0.294000	0.27393	0.386000	0.20702	0.181000	0.19994	-0.176000	0.13171	CAG	MMEL1	-	pfam_Peptidase_M13_C	ENSG00000142606		0.602	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	102	0.00	0	C	NM_033467		2524347	2524347	-1	no_errors	ENST00000378412	ensembl	human	known	69_37n	missense	37	42.19	27	SNP	0.998	G
MOCOS	55034	genome.wustl.edu	37	18	33795621	33795621	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:33795621C>T	ENST00000261326.5	+	8	1499	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGCACTCATCAGGGGACTGG	0.557																																						dbGAP											0													60.0	54.0	56.0					18																	33795621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1478C>T	18.37:g.33795621C>T	ENSP00000261326:p.Ser493Leu			Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.S493L	ENST00000261326.5	37	c.1478	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795851	0.31777	.	.	ENSG00000075643	ENST00000261326	T	0.15017	2.46	5.59	3.73	0.42828	.	0.442947	0.26673	N	0.023094	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.26744	-1.0094	10	0.26408	T	0.33	0.2172	12.8034	0.57598	0.0:0.6885:0.3114:0.0	.	493	Q96EN8	MOCOS_HUMAN	L	493	ENSP00000261326:S493L	ENSP00000261326:S493L	S	+	2	0	MOCOS	32049619	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.937000	0.28951	1.355000	0.45865	0.561000	0.74099	TCA	MOCOS	-	NULL	ENSG00000075643		0.557	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	60	0.00	0	C			33795621	33795621	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	missense	15	66.67	30	SNP	0.001	T
MOCOS	55034	genome.wustl.edu	37	18	33848647	33848647	+	Stop_Codon_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:33848647delA	ENST00000261326.5	+	0	2687					NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTTACCTCCTAAAAAAAATTT	0.368																																						dbGAP											0													90.0	84.0	86.0					18																	33848647		2203	4300	6503	-	-	-	SO:0001567	stop_retained_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	Exception_encountered	18.37:g.33848647delA				Frame_Shift_Del	DEL	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.*889fs	ENST00000261326.5	37	c.2666	CCDS11919.1	18																																																																																			MOCOS	-	NULL	ENSG00000075643		0.368	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	115	0.00	0	A			33848647	33848647	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	frame_shift_del	63	32.26	30	DEL	0.029	-
MOCS1	4337	genome.wustl.edu	37	6	39874156	39874156	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:39874156G>A	ENST00000340692.5	-	11	1891	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	MOCS1_ENST00000373195.3_Missense_Mutation_p.R527W|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000308559.7_Missense_Mutation_p.R614W|MOCS1_ENST00000425303.2_Missense_Mutation_p.R630W|MOCS1_ENST00000373188.2_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	630	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGTCCCCCCGCTGACCACCA	0.592																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	dbGAP											0													121.0	120.0	121.0					6																	39874156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1888C>T	6.37:g.39874156G>A	ENSP00000344794:p.Arg630Trp		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.R630W	ENST00000340692.5	37	c.1888		6	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609717	0.46527	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.33216	1.42;1.43;1.44;1.43	5.34	4.45	0.53987	Molybdopterin cofactor biosynthesis C (MoaC) domain (2);	0.066943	0.56097	D	0.000027	T	0.38957	0.1060	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;P	0.64595	0.927;0.781;0.891	T	0.40646	-0.9552	9	0.66056	D	0.02	-25.1429	8.6846	0.34229	0.0:0.1326:0.5093:0.3581	.	614;630;630	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	W	614;527;630;630	ENSP00000309843:R614W;ENSP00000362291:R527W;ENSP00000344794:R630W;ENSP00000416478:R630W	ENSP00000309843:R614W	R	-	1	2	MOCS1	39982134	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	1.628000	0.37060	1.190000	0.43042	0.462000	0.41574	CGG	MOCS1	-	superfamily_Mopterin_CF_biosynth-C_dom	ENSG00000124615		0.592	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	38	0.00	0	G	NM_005943		39874156	39874156	-1	no_errors	ENST00000340692	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	A
MORN3	283385	genome.wustl.edu	37	12	122091035	122091035	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:122091035C>G	ENST00000355329.3	-	4	764	c.594G>C	c.(592-594)atG>atC	p.M198I		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	198						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAAAGTCGATCATCGTCCCGC	0.612																																						dbGAP											0													56.0	46.0	49.0					12																	122091035		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.594G>C	12.37:g.122091035C>G	ENSP00000347486:p.Met198Ile		Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.M198I	ENST00000355329.3	37	c.594	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452174	0.43531	.	.	ENSG00000139714	ENST00000355329	T	0.71222	-0.55	4.86	4.86	0.63082	.	0.195388	0.49916	D	0.000135	T	0.52403	0.1732	N	0.13098	0.295	0.37043	D	0.897249	B	0.18741	0.03	B	0.12837	0.008	T	0.54221	-0.8326	10	0.27082	T	0.32	.	12.8296	0.57738	0.0:0.9173:0.0:0.0827	.	198	Q6PF18	MORN3_HUMAN	I	198	ENSP00000347486:M198I	ENSP00000347486:M198I	M	-	3	0	MORN3	120575418	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.071000	0.50041	2.422000	0.82143	0.561000	0.74099	ATG	MORN3	-	NULL	ENSG00000139714		0.612	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	33	0.00	0	C	NM_173855		122091035	122091035	-1	no_errors	ENST00000355329	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	G
MPDZ	8777	genome.wustl.edu	37	9	13176326	13176326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:13176326C>A	ENST00000319217.7	-	20	2987	c.2740G>T	c.(2740-2742)Gag>Tag	p.E914*	MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E914*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E914*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E914*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E914*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E914*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E914*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	914					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGTGTATTCTCATCCTGTCTT	0.398																																						dbGAP											0													83.0	71.0	75.0					9																	13176326		1853	4096	5949	-	-	-	SO:0001587	stop_gained	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2740G>T	9.37:g.13176326C>A	ENSP00000320006:p.Glu914*		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E914*	ENST00000319217.7	37	c.2740		9	.	.	.	.	.	.	.	.	.	.	C	39	7.354334	0.98231	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.78	4.89	0.63831	.	0.548887	0.15189	N	0.275653	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.1268	0.59360	0.0:0.9262:0.0:0.0738	.	.	.	.	X	914;914;914;914;914;914;864;914	.	ENSP00000320006:E914X	E	-	1	0	MPDZ	13166326	0.973000	0.33851	0.014000	0.15608	0.237000	0.25408	4.695000	0.61767	1.457000	0.47850	-0.251000	0.11542	GAG	MPDZ	-	NULL	ENSG00000107186		0.398	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	87	0.00	0	C	NM_003829		13176326	13176326	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	nonsense	78	41.79	56	SNP	0.185	A
MRPL11	65003	genome.wustl.edu	37	11	66204351	66204351	+	Intron	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:66204351C>A	ENST00000310999.7	-	4	567				MRPL11_ENST00000329819.4_Missense_Mutation_p.G168V|MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						GGAGATCTTTCCATTTCTTAG	0.488																																						dbGAP											0													156.0	129.0	138.0					11																	66204351		2200	4295	6495	-	-	-	SO:0001627	intron_variant	0			AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.473+223G>T	11.37:g.66204351C>A			A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ	p.G168V	ENST00000310999.7	37	c.503	CCDS8139.1	11	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085171	0.20390	.	.	ENSG00000174547	ENST00000528272;ENST00000329819	.	.	.	2.65	1.7	0.24286	.	.	.	.	.	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18555	-1.0333	8	0.41790	T	0.15	.	6.6492	0.22953	0.2833:0.7167:0.0:0.0	.	168	A6NLT0	.	V	50;168	.	ENSP00000329630:G168V	G	-	2	0	MRPL11	65960927	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.068000	0.11561	0.648000	0.30732	0.561000	0.74099	GGA	MRPL11	-	NULL	ENSG00000174547		0.488	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL11	HGNC	protein_coding	OTTHUMT00000393098.2	129	0.00	0	C	NM_016050		66204351	66204351	-1	no_errors	ENST00000329819	ensembl	human	known	69_37n	missense	39	51.25	41	SNP	0.001	A
MRE11A	4361	genome.wustl.edu	37	11	94189498	94189498	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:94189498G>A	ENST00000323929.3	-	14	1729	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	MRE11A_ENST00000393241.4_Missense_Mutation_p.R503C|MRE11A_ENST00000323977.3_Missense_Mutation_p.R503C|MRE11A_ENST00000407439.3_Missense_Mutation_p.R506C	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	503			R -> H (in cancer). {ECO:0000269|PubMed:11196167}.		base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCTCTGAAACGACGTACCTAG	0.318								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0													126.0	126.0	126.0					11																	94189498		2200	4298	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1507C>T	11.37:g.94189498G>A	ENSP00000325863:p.Arg503Cys		O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.R503C	ENST00000323929.3	37	c.1507	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981747	0.74474	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.75589	-0.95;-0.95;-0.94;-0.95	5.78	4.87	0.63330	.	0.497665	0.25037	N	0.033635	T	0.76219	0.3957	L	0.47716	1.5	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.994	P;P;P	0.56474	0.634;0.799;0.634	T	0.77284	-0.2645	10	0.66056	D	0.02	-8.0515	8.723	0.34452	0.0734:0.0:0.6784:0.2482	.	506;503;503	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	C	503;506;503;503	ENSP00000325863:R503C;ENSP00000385614:R506C;ENSP00000326094:R503C;ENSP00000376933:R503C	ENSP00000325863:R503C	R	-	1	0	MRE11A	93829146	0.997000	0.39634	0.995000	0.50966	0.900000	0.52787	0.917000	0.28665	1.456000	0.47831	0.591000	0.81541	CGT	MRE11A	-	pirsf_DNA_repair_Mre11	ENSG00000020922		0.318	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	196	0.00	0	G	NM_005591		94189498	94189498	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	missense	93	55.71	117	SNP	0.980	A
MT1E	4493	genome.wustl.edu	37	16	56660528	56660528	+	Intron	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:56660528G>A	ENST00000306061.6	+	2	471				MT1E_ENST00000330439.6_Nonsense_Mutation_p.W60*|MT1E_ENST00000568293.1_Intron	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										GCATCCTTCTGGGGAACTGGG	0.572																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.94+85G>A	16.37:g.56660528G>A			A2RRF7|Q86YX4|Q8TD51	Nonsense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom	p.W60*	ENST00000306061.6	37	c.179	CCDS10764.2	16	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304763	0.40795	.	.	ENSG00000169715	ENST00000330439	.	.	.	1.92	-0.357	0.12579	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0805	0.09924	0.1523:0.0:0.6215:0.2262	.	.	.	.	X	60	.	.	W	+	2	0	MT1E	55218029	0.007000	0.16637	0.003000	0.11579	0.264000	0.26372	0.916000	0.28651	-0.044000	0.13491	0.313000	0.20887	TGG	MT1E	-	NULL	ENSG00000169715		0.572	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1E	HGNC	protein_coding	OTTHUMT00000256600.1	65	0.00	0	G	NM_175617		56660528	56660528	+1	no_errors	ENST00000330439	ensembl	human	putative	69_37n	nonsense	45	53.61	52	SNP	0.026	A
MTOR	2475	genome.wustl.edu	37	1	11210203	11210203	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:11210203G>A	ENST00000361445.4	-	31	4626	c.4550C>T	c.(4549-4551)gCt>gTt	p.A1517V	RNU6-537P_ENST00000517277.1_RNA|MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1517	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGCAGCTGCAGCAGCCATCCG	0.532																																						dbGAP											0													78.0	70.0	73.0					1																	11210203		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4550C>T	1.37:g.11210203G>A	ENSP00000354558:p.Ala1517Val		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A1517V	ENST00000361445.4	37	c.4550	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.385587	0.95967	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.71579	-0.58	5.16	5.16	0.70880	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87241	0.6128	M	0.90595	3.13	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.89228	0.3575	10	0.59425	D	0.04	-1.7085	19.0171	0.92899	0.0:0.0:1.0:0.0	.	1517	P42345	MTOR_HUMAN	V	1517	ENSP00000354558:A1517V	ENSP00000354558:A1517V	A	-	2	0	MTOR	11132790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.561000	0.86390	0.655000	0.94253	GCT	MTOR	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000198793		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	74	0.00	0	G	NM_004958		11210203	11210203	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100634086	100634086	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:100634086C>T	ENST00000379442.3	+	5	671	c.671C>T	c.(670-672)tCa>tTa	p.S224L	MUC12_ENST00000536621.1_Missense_Mutation_p.S81L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	224	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGTGAGGAATCAACAGTATCC	0.493																																						dbGAP											0													147.0	133.0	137.0					7																	100634086		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.671C>T	7.37:g.100634086C>T	ENSP00000368755:p.Ser224Leu		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S224L	ENST00000379442.3	37	c.671		7	.	.	.	.	.	.	.	.	.	.	-	4.087	0.014038	0.07959	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.704	0.704	0.18121	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43343	-0.9397	7	0.22109	T	0.4	.	7.2724	0.26264	0.0:0.9999:0.0:1.0E-4	.	.	.	.	L	224;81	ENSP00000368755:S224L;ENSP00000441929:S81L	ENSP00000368755:S224L	S	+	2	0	MUC12	100420806	0.002000	0.14202	0.003000	0.11579	0.015000	0.08874	0.033000	0.13754	0.667000	0.31107	0.173000	0.16961	TCA	MUC12	-	NULL	ENSG00000205277		0.493	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	130	0.00	0	C	XM_379904		100634086	100634086	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	166	30.71	74	SNP	0.004	T
MUC16	94025	genome.wustl.edu	37	19	9046939	9046939	+	Silent	SNP	C	C	T	rs559195894		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:9046939C>T	ENST00000397910.4	-	5	34895	c.34692G>A	c.(34690-34692)ttG>ttA	p.L11564L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11566	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCTCACTCAATGTTGGGA	0.493																																						dbGAP											0													151.0	149.0	149.0					19																	9046939		1979	4163	6142	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34692G>A	19.37:g.9046939C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.L11564	ENST00000397910.4	37	c.34692	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	216	0.00	0	C	NM_024690		9046939	9046939	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	178	36.65	103	SNP	0.001	T
MUC17	140453	genome.wustl.edu	37	7	100681242	100681242	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:100681242C>G	ENST00000306151.4	+	3	6609	c.6545C>G	c.(6544-6546)tCa>tGa	p.S2182*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2182	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCCTTTCAACAACTCCT	0.483																																						dbGAP											0													262.0	261.0	261.0					7																	100681242		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6545C>G	7.37:g.100681242C>G	ENSP00000302716:p.Ser2182*		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S2182*	ENST00000306151.4	37	c.6545	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.556756	0.99427	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.683	0.683	0.17998	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	7.3005	0.26418	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	2182	.	ENSP00000302716:S2182X	S	+	2	0	MUC17	100467962	0.000000	0.05858	0.014000	0.15608	0.060000	0.15804	0.243000	0.18106	0.681000	0.31386	0.134000	0.15878	TCA	MUC17	-	NULL	ENSG00000169876		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	149	0.00	0	C	NM_001040105		100681242	100681242	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	nonsense	164	33.60	83	SNP	0.119	G
MUC2	4583	genome.wustl.edu	37	11	1093500	1093500	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:1093500C>T	ENST00000441003.2	+	30	5346	c.5319C>T	c.(5317-5319)acC>acT	p.T1773T	MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_Silent_p.T61T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tcaccaccaccactacgatga	0.612																																						dbGAP											0													92.0	115.0	107.0					11																	1093500		2138	4209	6347	-	-	-	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5319C>T	11.37:g.1093500C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1773	ENST00000441003.2	37	c.5319		11																																																																																			MUC2	-	NULL	ENSG00000198788		0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	316	0.00	0	C	NM_002457		1093500	1093500	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	silent	152	21.24	41	SNP	0.599	T
MUC2	4583	genome.wustl.edu	37	11	1093642	1093642	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:1093642A>G	ENST00000441003.2	+	30	5488	c.5461A>G	c.(5461-5463)Acg>Gcg	p.T1821A	MUC2_ENST00000359061.5_Missense_Mutation_p.T1777A|MUC2_ENST00000333592.6_Missense_Mutation_p.T109A|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACCACCACTACGGTGACCCC	0.607																																						dbGAP											0													125.0	165.0	152.0					11																	1093642		2185	4262	6447	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5461A>G	11.37:g.1093642A>G	ENSP00000415183:p.Thr1821Ala		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1821A	ENST00000441003.2	37	c.5461		11	.	.	.	.	.	.	.	.	.	.	A	1.191	-0.635186	0.03584	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.10288	2.97;3.03;2.89	1.57	0.162	0.14981	.	0.877251	0.08696	U	0.907208	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.38457	-0.9660	9	0.66056	D	0.02	.	5.4611	0.16617	0.7124:0.2876:0.0:0.0	.	1821	E7EUV1	.	A	1821;1777;109	ENSP00000415183:T1821A;ENSP00000351956:T1777A;ENSP00000331373:T109A	ENSP00000331373:T109A	T	+	1	0	MUC2	1083642	.	.	0.002000	0.10522	0.006000	0.05464	.	.	-0.129000	0.11620	0.254000	0.18369	ACG	MUC2	-	NULL	ENSG00000198788		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	303	0.00	0	A	NM_002457		1093642	1093642	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	96	32.87	47	SNP	0.001	G
MUSK	4593	genome.wustl.edu	37	9	113449439	113449439	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:113449439C>G	ENST00000374448.4	+	3	383	c.249C>G	c.(247-249)ctC>ctG	p.L83L	MUSK_ENST00000416899.2_Silent_p.L83L|MUSK_ENST00000374439.1_5'Flank|MUSK_ENST00000189978.5_Silent_p.L83L|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	83	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATGGGCAGCTCCTCACCATCC	0.512																																						dbGAP											0													170.0	172.0	171.0					9																	113449439		2014	4184	6198	-	-	-	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.249C>G	9.37:g.113449439C>G			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L83	ENST00000374448.4	37	c.249	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000030304		0.512	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		154	0.00	0	C			113449439	113449439	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	silent	116	35.56	64	SNP	1.000	G
MYBPC2	4606	genome.wustl.edu	37	19	50954182	50954182	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:50954182C>T	ENST00000357701.5	+	14	1620	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	523	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGGCCAAGCTCAACTTCCTGG	0.612																																						dbGAP											0													40.0	44.0	43.0					19																	50954182		2041	4165	6206	-	-	-	SO:0001819	synonymous_variant	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1569C>T	19.37:g.50954182C>T			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L523	ENST00000357701.5	37	c.1569	CCDS46152.1	19																																																																																			MYBPC2	-	smart_Ig_sub	ENSG00000086967		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	38	0.00	0	C	NM_004533		50954182	50954182	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	silent	46	23.33	14	SNP	1.000	T
MYH11	4629	genome.wustl.edu	37	16	15813521	15813521	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:15813521C>T	ENST00000300036.5	-	35	5112	c.5003G>A	c.(5002-5004)aGa>aAa	p.R1668K	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.R1675K|MYH11_ENST00000576790.2_Missense_Mutation_p.R1668K|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.R1675K|NDE1_ENST00000396354.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1668					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATCTCATCTCTGGAGGCACG	0.512			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													161.0	143.0	149.0					16																	15813521		2197	4300	6497	-	-	-	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5003G>A	16.37:g.15813521C>T	ENSP00000300036:p.Arg1668Lys		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1675K	ENST00000300036.5	37	c.5024	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169146	0.78339	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.19	5.19	0.71726	Myosin tail (1);	0.055691	0.64402	D	0.000001	T	0.81987	0.4939	L	0.40543	1.245	0.53688	D	0.999975	B;P;P;P;P	0.45240	0.081;0.854;0.854;0.854;0.854	B;P;P;P;P	0.56648	0.17;0.803;0.803;0.803;0.803	D	0.83402	0.0023	10	0.62326	D	0.03	.	17.7162	0.88337	0.0:1.0:0.0:0.0	.	1675;1668;1675;1668;1675	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1668;1668;1675;1675;1675	ENSP00000300036:R1668K;ENSP00000345136:R1668K;ENSP00000379616:R1675K;ENSP00000407821:R1675K	ENSP00000300036:R1668K	R	-	2	0	MYH11	15721022	1.000000	0.71417	0.982000	0.44146	0.941000	0.58515	5.454000	0.66651	2.420000	0.82092	0.655000	0.94253	AGA	MYH11	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000133392		0.512	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	118	0.00	0	C	NM_001040113		15813521	15813521	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	missense	91	29.46	38	SNP	1.000	T
MYL6B	140465	genome.wustl.edu	37	12	56547854	56547854	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:56547854C>T	ENST00000553066.1	+	2	574	c.152C>T	c.(151-153)cCa>cTa	p.P51L	MYL6B_ENST00000550443.1_Missense_Mutation_p.P51L|MYL6B_ENST00000207437.5_Missense_Mutation_p.P51L|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000552568.1_Missense_Mutation_p.P51L|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	51					metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CAGGAGCCTCCAGTCGATCTC	0.572																																						dbGAP											0													35.0	43.0	40.0					12																	56547854		2203	4299	6502	-	-	-	SO:0001583	missense	0			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.152C>T	12.37:g.56547854C>T	ENSP00000450385:p.Pro51Leu			Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.P51L	ENST00000553066.1	37	c.152	CCDS8905.1	12	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369042	0.61624	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.22	4.32	0.51571	.	0.000000	0.64402	D	0.000003	T	0.81791	0.4897	N	0.19112	0.55	0.53005	D	0.999962	P;D	0.76494	0.799;0.999	P;D	0.64237	0.506;0.923	T	0.82319	-0.0516	10	0.56958	D	0.05	-14.4105	10.7142	0.46002	0.0:0.9098:0.0:0.0902	.	51;51	B4E368;P14649	.;MYL6B_HUMAN	L	51	ENSP00000450385:P51L;ENSP00000446643:P51L;ENSP00000207437:P51L;ENSP00000446965:P51L	ENSP00000207437:P51L	P	+	2	0	MYL6B	54834121	0.885000	0.30320	0.993000	0.49108	0.748000	0.42578	1.527000	0.35975	2.608000	0.88229	0.561000	0.74099	CCA	MYL6B	-	NULL	ENSG00000196465		0.572	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYL6B	HGNC	protein_coding	OTTHUMT00000407920.2	96	0.00	0	C	NM_002475		56547854	56547854	+1	no_errors	ENST00000207437	ensembl	human	known	69_37n	missense	39	33.90	20	SNP	0.976	T
MYO10	4651	genome.wustl.edu	37	5	16935899	16935899	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:16935899C>T	ENST00000513610.1	-	1	473	c.19G>A	c.(19-21)Gag>Aag	p.E7K	MYO10_ENST00000507288.1_Missense_Mutation_p.E7K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	7					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						GCACTTACCTCGGTGAAGAAG	0.672																																						dbGAP											0													34.0	43.0	40.0					5																	16935899		1971	4146	6117	-	-	-	SO:0001583	missense	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.19G>A	5.37:g.16935899C>T	ENSP00000421280:p.Glu7Lys		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_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_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.E7K	ENST00000513610.1	37	c.19	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875467	0.72180	.	.	ENSG00000145555	ENST00000513610;ENST00000502436;ENST00000507288	D;D;D	0.86497	-2.13;-2.05;-1.82	4.99	4.99	0.66335	.	.	.	.	.	T	0.76314	0.3970	N	0.11364	0.135	0.80722	D	1	B;B;B	0.19445	0.036;0.009;0.009	B;B;B	0.11329	0.006;0.003;0.002	T	0.73313	-0.4022	9	0.51188	T	0.08	.	13.764	0.62983	0.0:1.0:0.0:0.0	.	7;7;7	Q8IVX5;E9PCN3;Q9HD67	.;.;MYO10_HUMAN	K	7	ENSP00000421280:E7K;ENSP00000426783:E7K;ENSP00000426664:E7K	ENSP00000426783:E7K	E	-	1	0	MYO10	16988899	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	3.384000	0.52478	2.302000	0.77476	0.561000	0.74099	GAG	MYO10	-	NULL	ENSG00000145555		0.672	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	42	0.00	0	C	NM_012334		16935899	16935899	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	T
MYO7B	4648	genome.wustl.edu	37	2	128385990	128385990	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:128385990G>A	ENST00000409816.2	+	32	4458	c.4426G>A	c.(4426-4428)Gag>Aag	p.E1476K	RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1476K|MYO7B_ENST00000389524.4_Missense_Mutation_p.E1476K|MYO7B_ENST00000409090.1_Missense_Mutation_p.E329K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1476	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACGATGCATGAGGAGTACGA	0.637																																						dbGAP											0													29.0	34.0	32.0					2																	128385990		2168	4254	6422	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4426G>A	2.37:g.128385990G>A	ENSP00000386461:p.Glu1476Lys		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E1476K	ENST00000409816.2	37	c.4426	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	11.59	1.683178	0.29872	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.99	2.14	0.27477	FERM domain (1);	0.112983	0.64402	D	0.000014	T	0.57784	0.2077	M	0.64997	1.995	0.37637	D	0.921902	P	0.37914	0.611	B	0.33750	0.169	T	0.62338	-0.6875	10	0.56958	D	0.05	.	8.6987	0.34312	0.1409:0.1241:0.735:0.0	.	1476	Q6PIF6	MYO7B_HUMAN	K	1476;1476;571;1476;329	ENSP00000374175:E1476K;ENSP00000415090:E1476K;ENSP00000386461:E1476K;ENSP00000386850:E329K	ENSP00000272666:E571K	E	+	1	0	MYO7B	128102460	1.000000	0.71417	0.095000	0.20976	0.082000	0.17680	8.567000	0.90737	0.692000	0.31613	0.289000	0.19496	GAG	MYO7B	-	pfscan_FERM_domain	ENSG00000169994		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	42	0.00	0	G	XM_291001		128385990	128385990	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.892	A
MYOM1	8736	genome.wustl.edu	37	18	3164315	3164315	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:3164315C>T	ENST00000356443.4	-	10	1795	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	MYOM1_ENST00000261606.7_Missense_Mutation_p.E488K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E488K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	488	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCATAATATTCTCCCATCCGT	0.408																																						dbGAP											0													72.0	70.0	71.0					18																	3164315		1986	4174	6160	-	-	-	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1462G>A	18.37:g.3164315C>T	ENSP00000348821:p.Glu488Lys		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E488K	ENST00000356443.4	37	c.1462	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990148	0.54041	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.76839	-1.05;-1.05;-1.05	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387478	0.30051	N	0.010526	T	0.72463	0.3463	L	0.36672	1.1	0.44531	D	0.997487	B;B	0.33841	0.246;0.428	B;B	0.37198	0.197;0.243	T	0.69877	-0.5026	10	0.29301	T	0.29	.	18.363	0.90382	0.0:1.0:0.0:0.0	.	488;488	P52179-2;P52179	.;MYOM1_HUMAN	K	488	ENSP00000348821:E488K;ENSP00000383413:E488K;ENSP00000261606:E488K	ENSP00000261606:E488K	E	-	1	0	MYOM1	3154315	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.616000	0.61197	2.566000	0.86566	0.563000	0.77884	GAA	MYOM1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000101605		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	98	0.00	0	C	NM_003803		3164315	3164315	-1	no_errors	ENST00000356443	ensembl	human	known	69_37n	missense	34	52.11	37	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2017432	2017432	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:2017432T>G	ENST00000262113.4	+	7	830	c.689T>G	c.(688-690)gTg>gGg	p.V230G	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	230	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TACTCAGCAGTGGCCACCAAT	0.557																																						dbGAP											0													87.0	79.0	82.0					8																	2017432		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.689T>G	8.37:g.2017432T>G	ENSP00000262113:p.Val230Gly		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V230G	ENST00000262113.4	37	c.689	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	T	14.08	2.427960	0.43122	.	.	ENSG00000036448	ENST00000262113	T	0.68479	-0.33	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.79924	0.4530	M	0.89904	3.07	0.80722	D	1	P	0.47677	0.899	P	0.54210	0.745	T	0.80153	-0.1501	10	0.19147	T	0.46	.	15.0073	0.71522	0.0:0.0:0.0:1.0	.	230	P54296	MYOM2_HUMAN	G	230	ENSP00000262113:V230G	ENSP00000262113:V230G	V	+	2	0	MYOM2	2004839	1.000000	0.71417	0.998000	0.56505	0.081000	0.17604	4.339000	0.59322	1.942000	0.56320	0.533000	0.62120	GTG	MYOM2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000036448		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	131	0.00	0	T	NM_003970		2017432	2017432	+1	no_errors	ENST00000262113	ensembl	human	known	69_37n	missense	39	60.20	59	SNP	1.000	G
NABP2	79035	genome.wustl.edu	37	12	56619427	56619427	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:56619427G>T	ENST00000380198.2	+	3	736	c.238G>T	c.(238-240)Ggt>Tgt	p.G80C	NABP2_ENST00000341463.5_Missense_Mutation_p.G80C|NABP2_ENST00000267023.4_Missense_Mutation_p.G80C			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	80					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										AGTTTTCAAAGGTTGTCTGAC	0.463																																						dbGAP											0													216.0	208.0	211.0					12																	56619427		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.238G>T	12.37:g.56619427G>T	ENSP00000369545:p.Gly80Cys		A6NDF8|Q6XYC8	Missense_Mutation	SNP	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like	p.G80C	ENST00000380198.2	37	c.238	CCDS8911.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222871	0.79464	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	3.94	3.94	0.45596	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.64402	D	0.000003	T	0.72748	0.3499	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.992	T	0.80011	-0.1561	10	0.87932	D	0	-9.0372	15.3368	0.74263	0.0:0.0:1.0:0.0	.	80;80;80	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	C	80	ENSP00000413902:G80C;ENSP00000408616:G80C;ENSP00000267023:G80C;ENSP00000369545:G80C;ENSP00000368862:G80C	ENSP00000267023:G80C	G	+	1	0	OBFC2B	54905694	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.258000	0.95555	2.216000	0.71823	0.442000	0.29010	GGT	NABP2	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like	ENSG00000139579		0.463	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	HGNC	protein_coding	OTTHUMT00000326610.1	253	0.00	0	G	NM_024068		56619427	56619427	+1	no_errors	ENST00000267023	ensembl	human	known	69_37n	missense	256	30.43	112	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	19955610	19955610	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:19955610G>A	ENST00000396087.3	+	8	1988	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	NAV2_ENST00000396085.1_Missense_Mutation_p.G607D|NAV2_ENST00000360655.4_Missense_Mutation_p.G543D|NAV2_ENST00000527559.2_Missense_Mutation_p.G559D|NAV2_ENST00000349880.4_Missense_Mutation_p.G607D|NAV2_ENST00000540292.1_Missense_Mutation_p.G561D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	630					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.G630D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCTGGACGGCAGACACTCC	0.637																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											45.0	48.0	47.0					11																	19955610		2199	4293	6492	-	-	-	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1889G>A	11.37:g.19955610G>A	ENSP00000379396:p.Gly630Asp		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.G630D	ENST00000396087.3	37	c.1889	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125098	0.37533	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.28069	1.63;1.73;1.74;1.75;1.64;1.64	5.52	5.52	0.82312	.	0.339314	0.28354	N	0.015658	T	0.23171	0.0560	N	0.14661	0.345	0.80722	D	1	B;B	0.27971	0.032;0.196	B;B	0.32211	0.038;0.142	T	0.06734	-1.0810	9	.	.	.	.	19.4398	0.94813	0.0:0.0:1.0:0.0	.	607;543	Q8IVL1-3;Q8IVL1-4	.;.	D	543;607;607;630;559;561	ENSP00000353871:G543D;ENSP00000379394:G607D;ENSP00000309577:G607D;ENSP00000379396:G630D;ENSP00000435395:G559D;ENSP00000443489:G561D	.	G	+	2	0	NAV2	19912186	1.000000	0.71417	0.983000	0.44433	0.931000	0.56810	6.565000	0.73974	2.590000	0.87494	0.563000	0.77884	GGC	NAV2	-	NULL	ENSG00000166833		0.637	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	44	0.00	0	G	NM_145117		19955610	19955610	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	missense	10	50.00	10	SNP	1.000	A
NCAM1	4684	genome.wustl.edu	37	11	113076329	113076329	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:113076329C>G	ENST00000533760.1	+	4	676	c.77C>G	c.(76-78)tCc>tGc	p.S26C	NCAM1_ENST00000401611.2_Missense_Mutation_p.S143C|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.S134C	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	144	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGGTCAGCTCCCTCCCACCA	0.522																																						dbGAP											0													154.0	153.0	153.0					11																	113076329		2027	4160	6187	-	-	-	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.77C>G	11.37:g.113076329C>G	ENSP00000473281:p.Ser26Cys		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S134C	ENST00000533760.1	37	c.401		11	.	.	.	.	.	.	.	.	.	.	C	33	5.196152	0.94960	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68331	-0.32;-0.32	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83321	0.5229	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.71656	0.965;0.965;0.968;0.974;0.945	D	0.84437	0.0580	9	0.66056	D	0.02	-26.2707	19.8991	0.96978	0.0:1.0:0.0:0.0	.	144;144;144;144;144	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	C	26;143;134	ENSP00000384055:S143C;ENSP00000318472:S134C	ENSP00000318472:S134C	S	+	2	0	NCAM1	112581539	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.731000	0.84895	2.708000	0.92522	0.655000	0.94253	TCC	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000149294		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	115	0.00	0	C	NM_000615		113076329	113076329	+1	no_errors	ENST00000316851	ensembl	human	known	69_37n	missense	42	46.84	37	SNP	1.000	G
NCAPD3	23310	genome.wustl.edu	37	11	134038496	134038496	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:134038496C>G	ENST00000534548.2	-	26	3305	c.3241G>C	c.(3241-3243)Gag>Cag	p.E1081Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1081					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGCCGCTTCTCTCTGTGGCAG	0.433																																						dbGAP											0													90.0	90.0	90.0					11																	134038496		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3240-1G>C	11.37:g.134038496C>G			A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Condns_HCP-6	p.E1081Q	ENST00000534548.2	37	c.3241	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.077696	0.94000	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.64618	-0.11;-0.11	5.73	5.73	0.89815	Armadillo-type fold (1);	0.087477	0.85682	D	0.000000	T	0.80065	0.4555	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77004	0.989;0.927	T	0.78894	-0.2024	9	.	.	.	-24.4341	19.9025	0.96993	0.0:1.0:0.0:0.0	.	1081;141	P42695;Q96FA6	CNDD3_HUMAN;.	Q	1081;117	ENSP00000433681:E1081Q;ENSP00000435173:E117Q	.	E	-	1	0	NCAPD3	133543706	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.835000	0.69368	2.722000	0.93159	0.655000	0.94253	GAG	NCAPD3	-	superfamily_ARM-type_fold,pirsf_Condns_HCP-6	ENSG00000151503		0.433	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	134	0.00	0	C	NM_015261	Missense_Mutation	134038496	134038496	-1	no_errors	ENST00000534548	ensembl	human	known	69_37n	missense	57	56.15	73	SNP	1.000	G
NCKAP5	344148	genome.wustl.edu	37	2	133540873	133540873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:133540873C>A	ENST00000409261.1	-	14	3884	c.3511G>T	c.(3511-3513)Gaa>Taa	p.E1171*	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E1171*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1171										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						CTGTCTTTTTCATGTTTCCCT	0.493																																						dbGAP											0													75.0	74.0	74.0					2																	133540873		1928	4139	6067	-	-	-	SO:0001587	stop_gained	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.3511G>T	2.37:g.133540873C>A	ENSP00000387128:p.Glu1171*		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	NULL	p.E1171*	ENST00000409261.1	37	c.3511	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	45	11.834403	0.99608	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	.	.	.	5.26	5.26	0.73747	.	0.000000	0.39407	U	0.001376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.2449	0.87025	0.0:1.0:0.0:0.0	.	.	.	.	X	1171	.	ENSP00000380603:E1171X	E	-	1	0	NCKAP5	133257343	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.247000	0.72411	2.739000	0.93911	0.655000	0.94253	GAA	NCKAP5	-	NULL	ENSG00000176771		0.493	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	86	0.00	0	C	NM_207481		133540873	133540873	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	nonsense	66	30.61	30	SNP	1.000	A
NCL	4691	genome.wustl.edu	37	2	232325216	232325216	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:232325216G>C	ENST00000322723.4	-	5	1111	c.871C>G	c.(871-873)Cct>Gct	p.P291A	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	291					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTGGCTTCAGGAGCTGCTTTC	0.423																																						dbGAP											0													206.0	179.0	188.0					2																	232325216		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.871C>G	2.37:g.232325216G>C	ENSP00000318195:p.Pro291Ala		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.P291A	ENST00000322723.4	37	c.871	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048053	0.55110	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.21932	1.98	5.36	5.36	0.76844	.	0.095487	0.85682	N	0.000000	T	0.29458	0.0734	M	0.75264	2.295	0.80722	D	1	B	0.32071	0.355	B	0.29267	0.1	T	0.12553	-1.0543	10	0.72032	D	0.01	-9.6188	18.1306	0.89600	0.0:0.0:1.0:0.0	.	291	P19338	NUCL_HUMAN	A	291;183	ENSP00000318195:P291A	ENSP00000318195:P291A	P	-	1	0	NCL	232033460	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	5.485000	0.66850	2.513000	0.84729	0.644000	0.83932	CCT	NCL	-	NULL	ENSG00000115053		0.423	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	259	0.00	0	G	NM_005381		232325216	232325216	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	missense	192	28.89	78	SNP	0.995	C
NECAP1	25977	genome.wustl.edu	37	12	8234951	8234951	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:8234951C>T	ENST00000339754.5	+	1	145	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	23					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		CTACCGGATTCCGCCCCGGGC	0.637																																						dbGAP											0													60.0	50.0	53.0					12																	8234951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.67C>T	12.37:g.8234951C>T	ENSP00000341737:p.Pro23Ser		Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	pfam_NECAP-1	p.P23S	ENST00000339754.5	37	c.67	CCDS8589.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.249694	0.95305	.	.	ENSG00000089818	ENST00000545179;ENST00000339754	T	0.76186	-1.0	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.90300	0.6966	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93182	0.6575	10	0.87932	D	0	.	15.4068	0.74884	0.0:1.0:0.0:0.0	.	23	Q8NC96	NECP1_HUMAN	S	23	ENSP00000341737:P23S	ENSP00000341737:P23S	P	+	1	0	NECAP1	8126218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.549000	0.73900	2.470000	0.83445	0.563000	0.77884	CCG	NECAP1	-	pfam_NECAP-1	ENSG00000089818		0.637	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAP1	HGNC	protein_coding	OTTHUMT00000400244.1	36	0.00	0	C	NM_015509		8234951	8234951	+1	no_errors	ENST00000339754	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	T
NEDD4	4734	genome.wustl.edu	37	15	56209009	56209009	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:56209009C>T	ENST00000508342.1	-	1	320	c.21G>A	c.(19-21)ttG>ttA	p.L7L	NEDD4_ENST00000506154.1_Silent_p.L7L|NEDD4_ENST00000338963.2_Silent_p.L7L|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	7					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CTGCAAAGTGCAATCGTAAGC	0.443																																						dbGAP											0													131.0	132.0	131.0					15																	56209009		2193	4290	6483	-	-	-	SO:0001819	synonymous_variant	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.21G>A	15.37:g.56209009C>T			A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.L7	ENST00000508342.1	37	c.21		15																																																																																			NEDD4	-	NULL	ENSG00000069869		0.443	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	63	0.00	0	C	NM_198400		56209009	56209009	-1	no_errors	ENST00000508342	ensembl	human	known	69_37n	silent	32	42.86	24	SNP	1.000	T
NES	10763	genome.wustl.edu	37	1	156639698	156639698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:156639698C>A	ENST00000368223.3	-	4	4414	c.4282G>T	c.(4282-4284)Gag>Tag	p.E1428*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1428	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					tccctcccctcctcctgatcc	0.632																																						dbGAP											0													16.0	19.0	18.0					1																	156639698		2194	4297	6491	-	-	-	SO:0001587	stop_gained	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4282G>T	1.37:g.156639698C>A	ENSP00000357206:p.Glu1428*		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	pfam_F	p.E1428*	ENST00000368223.3	37	c.4282	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.760932	0.97817	.	.	ENSG00000132688	ENST00000368223	.	.	.	4.33	-0.323	0.12709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.4397	0.27176	0.0:0.5615:0.1752:0.2633	.	.	.	.	X	1428	.	ENSP00000357206:E1428X	E	-	1	0	NES	154906322	0.000000	0.05858	0.043000	0.18650	0.140000	0.21249	0.451000	0.21779	-0.013000	0.14199	-1.151000	0.01829	GAG	NES	-	NULL	ENSG00000132688		0.632	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	14	0.00	0	C	NM_006617		156639698	156639698	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	nonsense	13	30.00	6	SNP	0.001	A
NES	10763	genome.wustl.edu	37	1	156640739	156640739	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:156640739C>G	ENST00000368223.3	-	4	3373	c.3241G>C	c.(3241-3243)Gag>Cag	p.E1081Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1081	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACATGACCTCTGGGGAGGCT	0.706																																						dbGAP											0													23.0	27.0	26.0					1																	156640739		2199	4282	6481	-	-	-	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3241G>C	1.37:g.156640739C>G	ENSP00000357206:p.Glu1081Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E1081Q	ENST00000368223.3	37	c.3241	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684013	0.29872	.	.	ENSG00000132688	ENST00000368223	D	0.93133	-3.17	5.25	1.99	0.26369	.	0.486350	0.15412	N	0.263691	D	0.87047	0.6080	M	0.65498	2.005	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.80493	-0.1358	10	0.45353	T	0.12	.	15.2781	0.73756	0.0:0.4767:0.5233:0.0	.	1081	P48681	NEST_HUMAN	Q	1081	ENSP00000357206:E1081Q	ENSP00000357206:E1081Q	E	-	1	0	NES	154907363	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	0.555000	0.23422	0.512000	0.28257	0.563000	0.77884	GAG	NES	-	NULL	ENSG00000132688		0.706	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	18	0.00	0	C	NM_006617		156640739	156640739	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.000	G
NF1	4763	genome.wustl.edu	37	17	29483062	29483062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:29483062delA	ENST00000358273.4	+	2	505	c.122delA	c.(121-123)gaafs	p.E41fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.E41fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.E41fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	41					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACAACAAGGAATGTCTAATC	0.323			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)											102.0	95.0	97.0					17																	29483062		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.122delA	17.37:g.29483062delA	ENSP00000351015:p.Glu41fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E41fs	ENST00000358273.4	37	c.122	CCDS42292.1	17																																																																																			NF1	-	NULL	ENSG00000196712		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	79	0.00	0	A	NM_000267		29483062	29483062	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	frame_shift_del	45	25.76	17	DEL	1.000	-
NFAT5	10725	genome.wustl.edu	37	16	69704148	69704148	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:69704148C>G	ENST00000354436.2	+	8	1778	c.1460C>G	c.(1459-1461)tCt>tGt	p.S487C	NFAT5_ENST00000393742.2_Missense_Mutation_p.S411C|NFAT5_ENST00000349945.1_Missense_Mutation_p.S411C|NFAT5_ENST00000432919.1_Missense_Mutation_p.S505C|NFAT5_ENST00000567239.1_Missense_Mutation_p.S505C|NFAT5_ENST00000566899.1_Missense_Mutation_p.S411C	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	487					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATGAAAACTCTTGGAAGTCA	0.254																																						dbGAP											0													29.0	31.0	30.0					16																	69704148		2190	4266	6456	-	-	-	SO:0001583	missense	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1460C>G	16.37:g.69704148C>G	ENSP00000346420:p.Ser487Cys		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S505C	ENST00000354436.2	37	c.1514	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281876	0.80692	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.97	4.97	0.65823	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.77004	0.97;0.956;0.989;0.987	T	0.39781	-0.9597	10	0.36615	T	0.2	.	18.2308	0.89934	0.0:1.0:0.0:0.0	.	505;487;505;411	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	C	505;505;411;487;411	ENSP00000396538:S505C;ENSP00000338806:S411C;ENSP00000346420:S487C;ENSP00000377343:S411C	ENSP00000338806:S411C	S	+	2	0	NFAT5	68261649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.463000	0.80869	2.285000	0.76669	0.585000	0.79938	TCT	NFAT5	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000102908		0.254	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	51	0.00	0	C	NM_138714		69704148	69704148	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	missense	24	42.86	18	SNP	1.000	G
NFATC4	4776	genome.wustl.edu	37	14	24837614	24837614	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:24837614delC	ENST00000250373.4	+	1	209	c.68delC	c.(67-69)gccfs	p.A23fs	NFATC4_ENST00000554591.1_Frame_Shift_Del_p.A86fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.A36fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.A86fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.A55fs|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.A23fs|NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.A36fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.A55fs|NFATC4_ENST00000556169.1_5'Flank|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.A23fs|NFATC4_ENST00000553469.1_Frame_Shift_Del_p.A55fs|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.A36fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	23					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GAAAAGGAGGCCCCCCCGCTG	0.682																																						dbGAP											0									,,,	4,3706		0,4,1851	6.0	6.0	6.0		,,,	0.4	1.0	14		7	20,7310		0,20,3645	no	frameshift,frameshift,frameshift,frameshift	NFATC4	NM_004554.4,NM_001198967.1,NM_001198965.1,NM_001136022.1	,,,	0,24,5496	A1A1,A1R,RR		0.2729,0.1078,0.2174	,,,	,,,	24837614	24,11016	2109	4121	6230	-	-	-	SO:0001589	frameshift_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.68delC	14.37:g.24837614delC	ENSP00000250373:p.Ala23fs		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P88fs	ENST00000250373.4	37	c.257	CCDS9629.1	14																																																																																			NFATC4	-	NULL	ENSG00000100968		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	23	0.00	0	C	NM_004554		24837614	24837614	+1	no_errors	ENST00000413692	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.992	-
NID1	4811	genome.wustl.edu	37	1	236212244	236212244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:236212244C>A	ENST00000264187.6	-	2	353	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E91*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	91					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGATGGGATTCTTTGGCCGGG	0.527																																						dbGAP											0													77.0	84.0	81.0					1																	236212244		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.271G>T	1.37:g.236212244C>A	ENSP00000264187:p.Glu91*		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Nonsense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E91*	ENST00000264187.6	37	c.271	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.454291	0.96223	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	4.81	4.81	0.61882	.	0.449037	0.26773	N	0.022566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	9.8737	0.41191	0.0:0.8424:0.0:0.1576	.	.	.	.	X	91	.	ENSP00000264187:E91X	E	-	1	0	NID1	234278867	0.350000	0.24878	0.163000	0.22734	0.980000	0.70556	1.223000	0.32527	2.495000	0.84180	0.655000	0.94253	GAA	NID1	-	NULL	ENSG00000116962		0.527	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	103	0.00	0	C	NM_002508		236212244	236212244	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	nonsense	49	22.22	14	SNP	0.059	A
NISCH	11188	genome.wustl.edu	37	3	52512531	52512531	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:52512531C>G	ENST00000479054.1	+	12	1312	c.1240C>G	c.(1240-1242)Ctg>Gtg	p.L414V	NISCH_ENST00000345716.4_Missense_Mutation_p.L414V|NISCH_ENST00000488380.1_Missense_Mutation_p.L414V|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000420808.2_Missense_Mutation_p.L414V			Q9Y2I1	NISCH_HUMAN	nischarin	414	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GAACAACCCTCTGAGCATCAT	0.602																																						dbGAP											0													110.0	94.0	99.0					3																	52512531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1240C>G	3.37:g.52512531C>G	ENSP00000418232:p.Leu414Val		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.L414V	ENST00000479054.1	37	c.1240	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426045	0.62733	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.85	4.97	0.65823	.	0.240335	0.41194	D	0.000923	T	0.28134	0.0694	N	0.24115	0.695	0.46586	D	0.999111	D;B	0.57257	0.979;0.33	P;B	0.55545	0.778;0.064	T	0.02526	-1.1146	10	0.33141	T	0.24	-17.5125	11.7567	0.51880	0.0:0.813:0.0:0.187	.	414;414	Q9Y2I1;C9J715	NISCH_HUMAN;.	V	414	ENSP00000418232:L414V;ENSP00000339958:L414V;ENSP00000417812:L414V;ENSP00000392484:L414V	ENSP00000339958:L414V	L	+	1	2	NISCH	52487571	0.652000	0.27349	0.995000	0.50966	0.999000	0.98932	1.140000	0.31516	1.453000	0.47775	0.655000	0.94253	CTG	NISCH	-	NULL	ENSG00000010322		0.602	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	85	0.00	0	C	NM_007184		52512531	52512531	+1	no_errors	ENST00000345716	ensembl	human	known	69_37n	missense	16	61.90	26	SNP	0.866	G
NIT2	56954	genome.wustl.edu	37	3	100058030	100058030	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:100058030C>T	ENST00000394140.4	+	2	198	c.107C>T	c.(106-108)gCc>gTc	p.A36V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	36	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACGCAAGGAGCCAAAATAGTT	0.512																																						dbGAP											0													138.0	137.0	137.0					3																	100058030		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.107C>T	3.37:g.100058030C>T	ENSP00000377696:p.Ala36Val		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.A36V	ENST00000394140.4	37	c.107	CCDS33806.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302677	0.81136	.	.	ENSG00000114021	ENST00000394140	D	0.90133	-2.62	5.21	5.21	0.72293	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.207707	0.49916	D	0.000131	D	0.95752	0.8618	M	0.87381	2.88	0.51767	D	0.99993	D;D	0.76494	0.999;0.993	D;P	0.64595	0.927;0.7	D	0.96251	0.9183	10	0.87932	D	0	-26.4394	19.112	0.93319	0.0:1.0:0.0:0.0	.	36;36	B7Z3F9;Q9NQR4	.;NIT2_HUMAN	V	36	ENSP00000377696:A36V	ENSP00000377696:A36V	A	+	2	0	NIT2	101540720	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	3.942000	0.56614	2.594000	0.87642	0.484000	0.47621	GCC	NIT2	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000114021		0.512	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT2	HGNC	protein_coding	OTTHUMT00000353142.2	118	0.00	0	C	NM_020202		100058030	100058030	+1	no_errors	ENST00000394140	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	1.000	T
NLRC3	197358	genome.wustl.edu	37	16	3613884	3613884	+	RNA	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:3613884C>T	ENST00000301749.7	-	0	1459				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGCTCTGCATCCTGGGGC	0.667																																						dbGAP											0													32.0	36.0	35.0					16																	3613884		1994	4145	6139	-	-	-			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613884C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A399T	ENST00000301749.7	37	c.1195		16	.	.	.	.	.	.	.	.	.	.	C	0.206	-1.040903	0.02013	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.15	-10.0	0.00425	.	1.141180	0.06335	N	0.706852	T	0.55800	0.1943	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45571	-0.9252	9	0.12766	T	0.61	.	1.9586	0.03381	0.1917:0.1506:0.177:0.4807	.	399	C9JLH9	.	T	352;352;352;399;334	ENSP00000301749:A352T;ENSP00000352039:A352T;ENSP00000414415:A399T;ENSP00000323897:A334T	ENSP00000301749:A352T	A	-	1	0	NLRC3	3553885	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-2.948000	0.00679	-1.509000	0.01798	-0.140000	0.14226	GCA	NLRC3	-	NULL	ENSG00000167984		0.667	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		27	0.00	0	C	NM_178844		3613884	3613884	-1	no_errors	ENST00000448023	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.000	T
NLRC5	84166	genome.wustl.edu	37	16	57103787	57103787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:57103787delC	ENST00000262510.6	+	37	4764	c.4539delC	c.(4537-4539)cacfs	p.H1513fs	NLRC5_ENST00000308149.7_Frame_Shift_Del_p.H1484fs|NLRC5_ENST00000539144.1_Frame_Shift_Del_p.H1484fs|NLRC5_ENST00000436936.1_Frame_Shift_Del_p.P1535fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1513					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCTCGCCCACCTGGCATCTG	0.652																																						dbGAP											0													21.0	17.0	18.0					16																	57103787		2197	4298	6495	-	-	-	SO:0001589	frameshift_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4539delC	16.37:g.57103787delC	ENSP00000262510:p.His1513fs		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.L1514fs	ENST00000262510.6	37	c.4539	CCDS10773.1	16																																																																																			NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000140853		0.652	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	25	0.00	0	C	NM_032206		57103787	57103787	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	0.859	-
NLRP1	22861	genome.wustl.edu	37	17	5436238	5436238	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:5436238T>A	ENST00000572272.1	-	11	3199	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	NLRP1_ENST00000269280.4_Missense_Mutation_p.D1067V|NLRP1_ENST00000577119.1_Missense_Mutation_p.D1037V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.D1067V|NLRP1_ENST00000262467.5_Missense_Mutation_p.D1071V|NLRP1_ENST00000354411.3_Missense_Mutation_p.D1037V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1067					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CGTATGCAGGTCCCCTTGAGA	0.562																																						dbGAP											0													92.0	81.0	85.0					17																	5436238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3200A>T	17.37:g.5436238T>A	ENSP00000460475:p.Asp1067Val		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.D1067V	ENST00000572272.1	37	c.3200	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540017	0.45176	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.73575	-0.76;-0.76;-0.71;-0.6;-0.71	3.94	0.141	0.14811	.	0.372113	0.19720	N	0.107601	T	0.76688	0.4022	M	0.65975	2.015	0.09310	N	0.999999	D;D;D;D;D;D	0.65815	0.995;0.995;0.995;0.991;0.995;0.968	D;D;D;P;D;P	0.65233	0.909;0.909;0.909;0.858;0.933;0.66	T	0.64462	-0.6402	10	0.49607	T	0.09	.	0.6257	0.00786	0.2032:0.1289:0.2099:0.458	.	333;1037;1037;1067;1067;1071	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	V	1071;1071;1067;1037;1067;333	ENSP00000442029:D1071V;ENSP00000262467:D1071V;ENSP00000269280:D1067V;ENSP00000346390:D1037V;ENSP00000324366:D1067V	ENSP00000262467:D1071V	D	-	2	0	NLRP1	5376962	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.037000	0.12164	-0.003000	0.14444	0.454000	0.30748	GAC	NLRP1	-	NULL	ENSG00000091592		0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	98	0.00	0	T	NM_033004		5436238	5436238	-1	no_errors	ENST00000572272	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	0.000	A
NLRP9	338321	genome.wustl.edu	37	19	56223333	56223333	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:56223333C>T	ENST00000332836.2	-	8	2703	c.2676G>A	c.(2674-2676)ctG>ctA	p.L892L	CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	892						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GACACGTTTGCAGCCTGCAAA	0.562																																						dbGAP											0													60.0	54.0	57.0					19																	56223333		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2676G>A	19.37:g.56223333C>T			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L892	ENST00000332836.2	37	c.2676	CCDS12934.1	19																																																																																			NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000185792		0.562	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	45	0.00	0	C	NM_176820		56223333	56223333	-1	no_errors	ENST00000332836	ensembl	human	known	69_37n	silent	31	44.64	25	SNP	0.530	T
NOMO2	283820	genome.wustl.edu	37	16	18573201	18573201	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:18573201G>C	ENST00000381474.3	-	1	227	c.162C>G	c.(160-162)atC>atG	p.I54M	NOMO2_ENST00000330537.6_Missense_Mutation_p.I54M|NOMO2_ENST00000543392.1_De_novo_Start_OutOfFrame	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	54						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						cgcTCACCTCGATGAGCGAGT	0.726																																						dbGAP											0													13.0	14.0	14.0					16																	18573201		2140	4198	6338	-	-	-	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.162C>G	16.37:g.18573201G>C	ENSP00000370883:p.Ile54Met		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.I54M	ENST00000381474.3	37	c.162	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	18.54	3.646651	0.67358	.	.	ENSG00000185164	ENST00000330537;ENST00000381474	T;T	0.06142	3.36;3.34	2.88	1.91	0.25777	.	0.272880	0.31323	U	0.007845	T	0.10465	0.0256	M	0.81341	2.54	0.80722	D	1	P	0.47762	0.9	B	0.42163	0.378	T	0.04373	-1.0956	10	0.72032	D	0.01	-14.3037	8.3155	0.32097	0.1251:0.0:0.8749:0.0	.	54	Q5JPE7	NOMO2_HUMAN	M	54	ENSP00000331851:I54M;ENSP00000370883:I54M	ENSP00000331851:I54M	I	-	3	3	NOMO2	18480702	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.610000	0.36869	0.392000	0.25172	0.455000	0.32223	ATC	NOMO2	-	superfamily_Collagen-bd_Cna_B-typ_dom	ENSG00000185164		0.726	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	11	0.00	0	G	NM_001004060		18573201	18573201	-1	no_errors	ENST00000381474	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	C
NOP2	4839	genome.wustl.edu	37	12	6672330	6672330	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:6672330C>T	ENST00000322166.5	-	9	1016	c.895G>A	c.(895-897)Gag>Aag	p.E299K	NOP2_ENST00000545200.1_Missense_Mutation_p.E295K|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000541778.1_Missense_Mutation_p.E295K|NOP2_ENST00000537442.1_Missense_Mutation_p.E299K|NOP2_ENST00000382421.3_Missense_Mutation_p.E332K|NOP2_ENST00000399466.2_Missense_Mutation_p.E295K	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	299					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TCTAAGAACTCCACCAGCTGC	0.587											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													31.0	34.0	33.0					12																	6672330		1946	4131	6077	-	-	-	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.895G>A	12.37:g.6672330C>T	ENSP00000313272:p.Glu299Lys	635	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.E299K	ENST00000322166.5	37	c.895	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969871	0.92855	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.49432	2.3;2.35;2.39;2.3;2.3;2.3;0.78	4.84	4.84	0.62591	.	0.152458	0.56097	D	0.000032	T	0.67524	0.2902	M	0.90252	3.1	0.80722	D	1	P;D	0.53885	0.757;0.963	B;P	0.56042	0.244;0.79	T	0.74532	-0.3634	10	0.62326	D	0.03	-31.5611	11.91	0.52733	0.0:0.9084:0.0:0.0916	.	295;295	Q05BA7;P46087-2	.;.	K	299;332;295;295;299;295;175	ENSP00000444437:E299K;ENSP00000371858:E332K;ENSP00000439422:E295K;ENSP00000382392:E295K;ENSP00000313272:E299K;ENSP00000443150:E295K;ENSP00000440754:E175K	ENSP00000313272:E299K	E	-	1	0	NOP2	6542591	1.000000	0.71417	0.951000	0.38953	0.768000	0.43524	5.964000	0.70379	2.232000	0.73038	0.655000	0.94253	GAG	NOP2	-	prints_RCMT_NOP2	ENSG00000111641		0.587	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	60	0.00	0	C	NM_006170		6672330	6672330	-1	no_errors	ENST00000322166	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	0.998	T
NOTCH2	4853	genome.wustl.edu	37	1	120462993	120462993	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:120462993C>T	ENST00000256646.2	-	30	5557	c.5338G>A	c.(5338-5340)Gaa>Aaa	p.E1780K	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1780					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)		GGGTCATCTTCTTCTGAGAGT	0.532			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													161.0	129.0	140.0					1																	120462993		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5338G>A	1.37:g.120462993C>T	ENSP00000256646:p.Glu1780Lys		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.E1780K	ENST00000256646.2	37	c.5338	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746951	0.49257	.	.	ENSG00000134250	ENST00000256646	D	0.81659	-1.52	5.82	5.82	0.92795	.	0.189238	0.25514	U	0.030152	T	0.60856	0.2301	L	0.48642	1.525	0.29602	N	0.847594	B	0.17667	0.023	B	0.11329	0.006	T	0.51076	-0.8751	10	0.07482	T	0.82	.	19.0775	0.93168	0.0:1.0:0.0:0.0	.	1780	Q04721	NOTC2_HUMAN	K	1780	ENSP00000256646:E1780K	ENSP00000256646:E1780K	E	-	1	0	NOTCH2	120264516	0.001000	0.12720	0.998000	0.56505	0.864000	0.49448	1.159000	0.31749	2.761000	0.94854	0.655000	0.94253	GAA	NOTCH2	-	pirsf_Notch	ENSG00000134250		0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	100	0.00	0	C	NM_024408		120462993	120462993	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.998	T
NPC1L1	29881	genome.wustl.edu	37	7	44571371	44571371	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:44571371C>G	ENST00000289547.4	-	10	2675	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q	NPC1L1_ENST00000546276.1_Intron|NPC1L1_ENST00000381160.3_Missense_Mutation_p.E874Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	874					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGGCCAGCTCCTGGTCCAGT	0.627																																						dbGAP											0													36.0	29.0	31.0					7																	44571371		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2620G>C	7.37:g.44571371C>G	ENSP00000289547:p.Glu874Gln		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E874Q	ENST00000289547.4	37	c.2620	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	c	8.246	0.807957	0.16467	.	.	ENSG00000015520	ENST00000289547;ENST00000381160	D;D	0.94376	-3.41;-3.41	4.57	3.66	0.41972	.	0.124558	0.52532	N	0.000076	D	0.89701	0.6791	L	0.58101	1.795	0.80722	D	1	B;B	0.28667	0.023;0.219	B;B	0.20184	0.015;0.028	D	0.84967	0.0880	10	0.22109	T	0.4	-14.4555	12.1648	0.54123	0.0:0.8252:0.1748:0.0	.	874;874	Q17RV5;D3DVK9	.;.	Q	874	ENSP00000289547:E874Q;ENSP00000370552:E874Q	ENSP00000289547:E874Q	E	-	1	0	NPC1L1	44537896	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.835000	0.39181	0.851000	0.35264	0.313000	0.20887	GAG	NPC1L1	-	pfam_Patched	ENSG00000015520		0.627	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	42	0.00	0	C	NM_013389		44571371	44571371	-1	no_errors	ENST00000289547	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	G
NPR1	4881	genome.wustl.edu	37	1	153661986	153661986	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:153661986G>C	ENST00000368680.3	+	18	3218	c.2746G>C	c.(2746-2748)Gat>Cat	p.D916H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	916	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGACAACTTTGATGTGTACAA	0.502																																					Pancreas(141;1349 1870 15144 15830 40702)	dbGAP											0													179.0	162.0	168.0					1																	153661986		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2746G>C	1.37:g.153661986G>C	ENSP00000357669:p.Asp916His		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.D916H	ENST00000368680.3	37	c.2746	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738081	0.69304	.	.	ENSG00000169418	ENST00000368680;ENST00000428723;ENST00000368677	D	0.85258	-1.96	3.11	3.11	0.35812	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.067406	0.56097	D	0.000035	D	0.88840	0.6546	M	0.74258	2.255	0.80722	D	1	P;D	0.62365	0.821;0.991	P;D	0.67548	0.792;0.952	D	0.89805	0.3978	10	0.72032	D	0.01	.	12.4922	0.55907	0.0:0.0:1.0:0.0	.	395;916	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	916;395;97	ENSP00000357669:D916H	ENSP00000357666:D97H	D	+	1	0	NPR1	151928610	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.304000	0.96190	2.057000	0.61298	0.462000	0.41574	GAT	NPR1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000169418		0.502	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	201	0.00	0	G	NM_000906		153661986	153661986	+1	no_errors	ENST00000368680	ensembl	human	known	69_37n	missense	140	33.65	71	SNP	1.000	C
NPVF	64111	genome.wustl.edu	37	7	25266492	25266492	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:25266492C>G	ENST00000222674.2	-	2	338	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	98					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTTCTTTCTTCTTGAACGTTC	0.468																																						dbGAP											0													179.0	175.0	177.0					7																	25266492		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.292G>C	7.37:g.25266492C>G	ENSP00000222674:p.Glu98Gln		A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.E98Q	ENST00000222674.2	37	c.292	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265485	0.40095	.	.	ENSG00000105954	ENST00000222674	T	0.28666	1.6	5.67	3.88	0.44766	.	0.093907	0.46758	D	0.000272	T	0.43344	0.1243	M	0.66939	2.045	0.33554	D	0.596455	D	0.56746	0.977	P	0.53593	0.73	T	0.61113	-0.7128	10	0.72032	D	0.01	-10.7724	11.07	0.47997	0.0:0.8559:0.0:0.1441	.	98	Q9HCQ7	RFRP_HUMAN	Q	98	ENSP00000222674:E98Q	ENSP00000222674:E98Q	E	-	1	0	NPVF	25233017	0.747000	0.28283	0.166000	0.22797	0.026000	0.11368	1.364000	0.34171	0.871000	0.35750	0.655000	0.94253	GAA	NPVF	-	NULL	ENSG00000105954		0.468	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	197	0.00	0	C	NM_022150		25266492	25266492	-1	no_errors	ENST00000222674	ensembl	human	known	69_37n	missense	148	35.22	81	SNP	0.980	G
NSMAF	8439	genome.wustl.edu	37	8	59498560	59498560	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:59498560C>G	ENST00000038176.3	-	29	2659		c.e29-1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				tggCGACTATCTGCAACACAA	0.448																																						dbGAP											0													117.0	100.0	106.0					8																	59498560		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2447-1G>C	8.37:g.59498560C>G			B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	-	e29-1	ENST00000038176.3	37	c.2540-1	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633082	0.29068	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0109	0.80402	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59661114	1.000000	0.71417	0.985000	0.45067	0.214000	0.24535	5.626000	0.67777	2.742000	0.94016	0.591000	0.81541	.	NSMAF	-	-	ENSG00000035681		0.448	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	77	0.00	0	C	NM_003580	Intron	59498560	59498560	-1	no_errors	ENST00000427130	ensembl	human	known	69_37n	splice_site	23	50.00	23	SNP	1.000	G
NTRK2	4915	genome.wustl.edu	37	9	87342753	87342753	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:87342753C>T	ENST00000323115.4	+	8	1391	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	NTRK2_ENST00000277120.3_Silent_p.L346L|NTRK2_ENST00000376214.1_Silent_p.L346L|NTRK2_ENST00000376208.1_Silent_p.L346L|NTRK2_ENST00000376213.1_Silent_p.L346L|NTRK2_ENST00000395882.1_Silent_p.L346L|NTRK2_ENST00000359847.3_Silent_p.L346L|NTRK2_ENST00000395866.2_Silent_p.L190L|NTRK2_ENST00000304053.6_Silent_p.L346L			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	346	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACGGCTGCCTCCAGCTGGATA	0.443										TSP Lung(25;0.17)																												dbGAP											0													122.0	114.0	117.0					9																	87342753		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1038C>T	9.37:g.87342753C>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.L346	ENST00000323115.4	37	c.1038	CCDS35050.1	9																																																																																			NTRK2	-	pfam_Ig_I-set,prints_Tyr_kinase_NGF_rcpt	ENSG00000148053		0.443	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	79	0.00	0	C			87342753	87342753	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	silent	100	20.00	25	SNP	1.000	T
NUP205	23165	genome.wustl.edu	37	7	135272692	135272692	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:135272692C>G	ENST00000285968.6	+	10	1451	c.1425C>G	c.(1423-1425)atC>atG	p.I475M	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	475					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 transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTCCGACTATCATGGGCTCTT	0.473																																						dbGAP											0													72.0	71.0	72.0					7																	135272692		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1425C>G	7.37:g.135272692C>G	ENSP00000285968:p.Ile475Met		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_DUF3414	p.I475M	ENST00000285968.6	37	c.1425	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779381	0.31502	.	.	ENSG00000155561	ENST00000285968	T	0.30448	1.53	5.85	0.796	0.18648	.	0.200703	0.44902	D	0.000403	T	0.15825	0.0381	N	0.22421	0.69	0.80722	D	1	B	0.19073	0.033	B	0.23716	0.048	T	0.08371	-1.0725	10	0.41790	T	0.15	-28.835	1.9486	0.03361	0.1127:0.4182:0.2194:0.2498	.	475	Q92621	NU205_HUMAN	M	475	ENSP00000285968:I475M	ENSP00000285968:I475M	I	+	3	3	NUP205	134923232	0.936000	0.31750	0.542000	0.28115	0.850000	0.48378	0.112000	0.15479	0.079000	0.16929	-0.136000	0.14681	ATC	NUP205	-	pfam_DUF3414	ENSG00000155561		0.473	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	87	0.00	0	C			135272692	135272692	+1	no_errors	ENST00000285968	ensembl	human	known	69_37n	missense	83	29.06	34	SNP	0.973	G
NUP43	348995	genome.wustl.edu	37	6	150052790	150052790	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:150052790G>A	ENST00000340413.2	-	7	948	c.872C>T	c.(871-873)gCt>gTt	p.A291V	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.A195V|NUP43_ENST00000460354.2_Missense_Mutation_p.A291V	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	291					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|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)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ATCTGTGGAAGCATCCCAGTG	0.383																																						dbGAP											0													119.0	111.0	114.0					6																	150052790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.872C>T	6.37:g.150052790G>A	ENSP00000342262:p.Ala291Val		B4E2F0|Q9H8S0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A291V	ENST00000340413.2	37	c.872	CCDS5218.1	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211156	0.79240	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367404	T;T;T	0.69306	0.09;0.09;-0.39	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.251366	0.46758	N	0.000279	T	0.47322	0.1439	L	0.34521	1.04	0.80722	D	1	B;B	0.20368	0.044;0.002	B;B	0.20384	0.029;0.008	T	0.38308	-0.9667	10	0.33940	T	0.23	-7.5243	19.9405	0.97159	0.0:0.0:1.0:0.0	.	195;291	B4E2F0;Q8NFH3	.;NUP43_HUMAN	V	291;291;195	ENSP00000342262:A291V;ENSP00000432401:A291V;ENSP00000356374:A195V	ENSP00000342262:A291V	A	-	2	0	NUP43	150094483	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.831000	0.75324	2.708000	0.92522	0.655000	0.94253	GCT	NUP43	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120253		0.383	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	HGNC	protein_coding	OTTHUMT00000396947.1	101	0.00	0	G	NM_198887		150052790	150052790	-1	no_errors	ENST00000340413	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228486990	228486990	+	Intron	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:228486990G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000366707.4_Missense_Mutation_p.R1104K|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.R4414K|OBSCN_ENST00000284548.11_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGGTCTGAGGAATGAAGAG	0.552																																						dbGAP											0													85.0	76.0	79.0					1																	228486990		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+4246G>A	1.37:g.228486990G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R1104K	ENST00000422127.1	37	c.3311	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891530	0.33442	.	.	ENSG00000154358	ENST00000366707	T	0.64438	-0.1	4.65	-2.5	0.06384	.	.	.	.	.	T	0.32224	0.0822	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.31081	-0.9956	6	0.02654	T	1	.	12.2948	0.54840	0.6991:0.0:0.3009:0.0	.	.	.	.	K	1104	ENSP00000355668:R1104K	ENSP00000355668:R1104K	R	+	2	0	OBSCN	226553613	0.000000	0.05858	0.033000	0.17914	0.244000	0.25665	0.021000	0.13489	-0.387000	0.07809	-0.258000	0.10820	AGG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000154358		0.552	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		24	0.00	0	G	NM_052843		228486990	228486990	+1	no_errors	ENST00000366707	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.042	A
OBSCN	84033	genome.wustl.edu	37	1	228495850	228495850	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:228495850G>A	ENST00000422127.1	+	47	12549	c.12505G>A	c.(12505-12507)Gag>Aag	p.E4169K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1803K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1288K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E5126K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4169K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4169					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTTGATGCGGAGGTGACGGC	0.597																																						dbGAP											0													89.0	102.0	98.0					1																	228495850		2163	4258	6421	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12505G>A	1.37:g.228495850G>A	ENSP00000409493:p.Glu4169Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E4169K	ENST00000422127.1	37	c.12505	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045172	0.75846	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.147695	0.44285	D	0.000464	T	0.76126	0.3944	L	0.54908	1.71	0.31944	N	0.610601	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.94	T	0.72906	-0.4150	10	0.16420	T	0.52	.	14.9705	0.71229	0.0:0.0:0.8572:0.1428	.	4169;4169	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	4169;4169;1803;1288	ENSP00000284548:E4169K;ENSP00000409493:E4169K;ENSP00000355668:E1803K;ENSP00000355670:E1288K	ENSP00000284548:E4169K	E	+	1	0	OBSCN	226562473	0.995000	0.38212	0.956000	0.39512	0.011000	0.07611	4.046000	0.57376	2.873000	0.98535	0.563000	0.77884	GAG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000154358		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		89	0.00	0	G	NM_052843		228495850	228495850	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	107	22.46	31	SNP	0.970	A
OBSL1	23363	genome.wustl.edu	37	2	220427277	220427277	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:220427277C>G	ENST00000404537.1	-	8	2856	c.2800G>C	c.(2800-2802)Gat>Cat	p.D934H	OBSL1_ENST00000289656.3_Missense_Mutation_p.D521H|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Missense_Mutation_p.D934H|OBSL1_ENST00000373876.1_Missense_Mutation_p.D934H|OBSL1_ENST00000373873.4_Missense_Mutation_p.D934H|OBSL1_ENST00000603926.1_Missense_Mutation_p.D934H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	934	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCCTCTCCATCCTTGGTCCAG	0.672																																						dbGAP											0													50.0	59.0	56.0					2																	220427277		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2800G>C	2.37:g.220427277C>G	ENSP00000385636:p.Asp934His		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D934H	ENST00000404537.1	37	c.2800	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027502	0.93518	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43919	0.1269	H	0.96333	3.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.993;0.986;0.995;0.999	T	0.63853	-0.6543	9	0.66056	D	0.02	.	18.0518	0.89351	0.0:1.0:0.0:0.0	.	935;934;521;934	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	H	934;934;934;934;521	ENSP00000265318:D934H;ENSP00000385636:D934H;ENSP00000362983:D934H;ENSP00000362980:D934H;ENSP00000289656:D521H	ENSP00000265318:D934H	D	-	1	0	OBSL1	220135521	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.591000	0.67536	2.341000	0.79615	0.655000	0.94253	GAT	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124006		0.672	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	95	0.00	0	C			220427277	220427277	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	G
OBSL1	23363	genome.wustl.edu	37	2	220428119	220428119	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:220428119C>T	ENST00000404537.1	-	7	2694	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	880	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTCCAGCGACGCACTGAAAC	0.662																																						dbGAP											0													34.0	40.0	38.0					2																	220428119		2077	4196	6273	-	-	-	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2638G>A	2.37:g.220428119C>T	ENSP00000385636:p.Val880Ile		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V880I	ENST00000404537.1	37	c.2638	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186517	0.38609	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.69	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76593	0.4009	L	0.58810	1.83	0.09310	N	1	D;D;D;D	0.76494	0.998;0.999;0.989;0.991	D;D;P;P	0.68943	0.934;0.961;0.475;0.688	T	0.64871	-0.6305	9	0.34782	T	0.22	.	13.3942	0.60840	0.0:0.9118:0.0:0.0881	.	881;880;467;880	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	I	880;880;880;880;467	ENSP00000265318:V880I;ENSP00000385636:V880I;ENSP00000362983:V880I;ENSP00000362980:V880I;ENSP00000289656:V467I	ENSP00000265318:V880I	V	-	1	0	OBSL1	220136363	0.002000	0.14202	0.472000	0.27241	0.415000	0.31203	1.292000	0.33342	2.433000	0.82419	0.561000	0.74099	GTC	OBSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124006		0.662	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	40	0.00	0	C			220428119	220428119	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.001	T
OBSL1	23363	genome.wustl.edu	37	2	220433035	220433035	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:220433035G>A	ENST00000404537.1	-	2	1080	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.R342W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R342W|OBSL1_ENST00000373873.4_Missense_Mutation_p.R342W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R342W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	342	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGTGTGAACCGGAGGCGGGGC	0.617											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													10.0	12.0	11.0					2																	220433035		1878	4106	5984	-	-	-	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1024C>T	2.37:g.220433035G>A	ENSP00000385636:p.Arg342Trp	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R342W	ENST00000404537.1	37	c.1024	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019703	0.75275	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.32	5.32	0.75619	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83381	0.5242	M	0.79926	2.475	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84767	0.0765	9	0.66056	D	0.02	.	19.1805	0.93622	0.0:0.0:1.0:0.0	.	342;342	O75147;O75147-2	OBSL1_HUMAN;.	W	342	ENSP00000265318:R342W;ENSP00000385636:R342W;ENSP00000362983:R342W;ENSP00000362980:R342W	ENSP00000265318:R342W	R	-	1	2	OBSL1	220141279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.469000	0.53093	2.764000	0.94973	0.650000	0.86243	CGG	OBSL1	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000124006		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	17	0.00	0	G			220433035	220433035	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	missense	2	83.33	10	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183600901	183600901	+	Missense_Mutation	SNP	G	G	T	rs190762721	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:183600901G>T	ENST00000511685.1	+	8	1532	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	TENM3_ENST00000406950.2_Missense_Mutation_p.R470L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	470					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGAGCCGGGCGGCAGGCGAGA	0.562																																						dbGAP											0													50.0	56.0	54.0					4																	183600901		1886	4099	5985	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1409G>T	4.37:g.183600901G>T	ENSP00000424226:p.Arg470Leu		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R470L	ENST00000511685.1	37	c.1409	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907446	0.52333	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.27890	1.64;1.64	5.52	5.52	0.82312	.	.	.	.	.	T	0.48750	0.1517	L	0.43152	1.355	0.58432	D	0.999999	P	0.45474	0.859	P	0.60173	0.87	T	0.37079	-0.9721	9	0.72032	D	0.01	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	470	Q9P273	TEN3_HUMAN	L	470	ENSP00000424226:R470L;ENSP00000385276:R470L	ENSP00000385276:R470L	R	+	2	0	ODZ3	183837895	1.000000	0.71417	0.517000	0.27799	0.087000	0.18053	9.278000	0.95766	2.873000	0.98535	0.563000	0.77884	CGG	ODZ3	-	NULL	ENSG00000218336		0.562	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	80	0.00	0	G			183600901	183600901	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	27	49.06	26	SNP	0.970	T
ONECUT2	9480	genome.wustl.edu	37	18	55103687	55103687	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:55103687C>T	ENST00000491143.2	+	1	771	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	247					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAGAGTCTGCCCAACTACGG	0.682																																						dbGAP											0													33.0	40.0	38.0					18																	55103687		2167	4260	6427	-	-	-	SO:0001583	missense	0			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.739C>T	18.37:g.55103687C>T	ENSP00000419185:p.Pro247Ser			Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.P247S	ENST00000491143.2	37	c.739	CCDS42440.1	18	.	.	.	.	.	.	.	.	.	.	C	9.879	1.201188	0.22121	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.77	3.9	0.45041	.	0.063724	0.64402	D	0.000010	T	0.33440	0.0863	L	0.35723	1.085	0.28574	N	0.910499	B	0.02656	0.0	B	0.01281	0.0	T	0.20907	-1.0261	9	0.07990	T	0.79	-19.2458	11.9668	0.53040	0.0:0.9127:0.0:0.0873	.	247	O95948	ONEC2_HUMAN	S	228;247	.	ENSP00000262095:P247S	P	+	1	0	ONECUT2	53254685	0.986000	0.35501	1.000000	0.80357	0.977000	0.68977	2.495000	0.45337	1.015000	0.39444	0.455000	0.32223	CCC	ONECUT2	-	NULL	ENSG00000119547		0.682	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	32	0.00	0	C			55103687	55103687	+1	no_errors	ENST00000262095	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	1.000	T
OR10K1	391109	genome.wustl.edu	37	1	158435690	158435690	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:158435690C>T	ENST00000289451.2	+	1	419	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCACTCCTTCCTGCTGGCAG	0.522																																						dbGAP											0													169.0	169.0	169.0					1																	158435690		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.339C>T	1.37:g.158435690C>T			Q6IFS2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F113	ENST00000289451.2	37	c.339	CCDS30897.1	1																																																																																			OR10K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000173285		0.522	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	186	0.00	0	C			158435690	158435690	+1	no_errors	ENST00000289451	ensembl	human	known	69_37n	silent	137	34.91	74	SNP	0.996	T
OR4D10	390197	genome.wustl.edu	37	11	59245060	59245060	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:59245060C>A	ENST00000530162.1	+	1	215	c.158C>A	c.(157-159)tCt>tAt	p.S53Y		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCTGTGAATCTCGCCTTCAC	0.443																																						dbGAP											0													191.0	198.0	196.0					11																	59245060		2148	4271	6419	-	-	-	SO:0001583	missense	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.158C>A	11.37:g.59245060C>A	ENSP00000436424:p.Ser53Tyr		B2RNH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S53Y	ENST00000530162.1	37	c.158	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	8.745	0.919967	0.17982	.	.	ENSG00000254466	ENST00000530162	T	0.01106	5.33	4.22	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03651	0.0104	M	0.81614	2.55	0.09310	N	1	B	0.33904	0.431	P	0.45474	0.482	T	0.16247	-1.0409	9	0.87932	D	0	.	6.5786	0.22581	0.1814:0.7182:0.0:0.1004	.	53	Q8NGI6	OR4DA_HUMAN	Y	53	ENSP00000436424:S53Y	ENSP00000436424:S53Y	S	+	2	0	OR4D10	59001636	0.000000	0.05858	0.646000	0.29493	0.079000	0.17450	-0.614000	0.05604	2.029000	0.59856	0.655000	0.94253	TCT	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000254466		0.443	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	96	0.00	0	C	NM_001004705		59245060	59245060	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	missense	91	20.87	24	SNP	0.004	A
OR5H6	79295	genome.wustl.edu	37	3	97983873	97983873	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:97983873G>T	ENST00000383696.2	+	1	786	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTATCAAAGGGATACGAAA	0.383																																						dbGAP											0													49.0	49.0	49.0					3																	97983873		2203	4299	6502	-	-	-	SO:0001583	missense	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.745G>T	3.37:g.97983873G>T	ENSP00000373196:p.Gly249Trp		Q6IF88	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G249W	ENST00000383696.2	37	c.745	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	11.12	1.544838	0.27563	.	.	ENSG00000230301	ENST00000383696	T	0.00304	8.19	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.646914	0.13627	N	0.374006	T	0.00936	0.0031	H	0.95780	3.72	0.20074	N	0.999932	D	0.76494	0.999	D	0.85130	0.997	T	0.24048	-1.0171	10	0.87932	D	0	.	10.0598	0.42268	0.0:0.0:1.0:0.0	.	249	Q8NGV6	OR5H6_HUMAN	W	249	ENSP00000373196:G249W	ENSP00000373196:G249W	G	+	1	0	OR5H6	99466563	0.262000	0.24073	0.060000	0.19600	0.023000	0.10783	1.011000	0.29911	1.220000	0.43490	0.194000	0.17425	GGG	OR5H6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000230301		0.383	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	96	0.00	0	G			97983873	97983873	+1	no_errors	ENST00000383696	ensembl	human	known	69_37n	missense	53	45.92	45	SNP	0.398	T
P2RY4	5030	genome.wustl.edu	37	X	69478418	69478418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:69478418delG	ENST00000374519.2	-	1	1236	c.1057delC	c.(1057-1059)cagfs	p.Q353fs		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	353					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTACTGTCCTGGGGGGTGGCC	0.627																																						dbGAP											0													41.0	43.0	42.0					X																	69478418		2200	4300	6500	-	-	-	SO:0001589	frameshift_variant	0			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.1057delC	X.37:g.69478418delG	ENSP00000363643:p.Gln353fs		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2U_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.Q353fs	ENST00000374519.2	37	c.1057	CCDS14398.1	X																																																																																			P2RY4	-	prints_P2Y4_purnocptor,prints_P2U_purnocptor	ENSG00000186912		0.627	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	58	0.00	0	G	NM_002565		69478418	69478418	-1	no_errors	ENST00000374519	ensembl	human	known	69_37n	frame_shift_del	18	30.77	8	DEL	0.000	-
P4HB	5034	genome.wustl.edu	37	17	79803764	79803764	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:79803764delT	ENST00000331483.4	-	8	1382	c.1160delA	c.(1159-1161)aacfs	p.N387fs	P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Frame_Shift_Del_p.N343fs|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	387	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CACAAAGACGTTTTTTTTCTC	0.557																																					Colon(49;444 983 1296 7887 42561)	dbGAP											0													73.0	70.0	71.0					17																	79803764		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1160delA	17.37:g.79803764delT	ENSP00000327801:p.Asn387fs		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Frame_Shift_Del	DEL	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.N387fs	ENST00000331483.4	37	c.1160	CCDS11787.1	17																																																																																			P4HB	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000185624		0.557	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	70	0.00	0	T	NM_000918		79803764	79803764	-1	no_errors	ENST00000331483	ensembl	human	known	69_37n	frame_shift_del	27	51.79	29	DEL	1.000	-
PACS1	55690	genome.wustl.edu	37	11	66009006	66009006	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:66009006G>C	ENST00000320580.4	+	22	2571	c.2538G>C	c.(2536-2538)aaG>aaC	p.K846N	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.K382N	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	846					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCAGCTCGAAGAACACCCTCA	0.632																																						dbGAP											0													97.0	71.0	80.0					11																	66009006		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2538G>C	11.37:g.66009006G>C	ENSP00000316454:p.Lys846Asn		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.K846N	ENST00000320580.4	37	c.2538	CCDS8129.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.653158|3.653158	0.67472|0.67472	.|.	.|.	ENSG00000175115|ENSG00000175115	ENST00000529677|ENST00000320580;ENST00000529757	.|T;T	.|0.61158	.|0.13;0.13	5.42|5.42	3.56|3.56	0.40772|0.40772	.|.	.|0.044570	.|0.85682	.|D	.|0.000000	T|T	0.73032|0.73032	0.3535|0.3535	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.73369|0.73369	-0.4004|-0.4004	5|10	.|0.87932	.|D	.|0	-25.7311|-25.7311	7.5992|7.5992	0.28067|0.28067	0.3225:0.0:0.6775:0.0|0.3225:0.0:0.6775:0.0	.|.	.|846	.|Q6VY07	.|PACS1_HUMAN	Q|N	30|846;382	.|ENSP00000316454:K846N;ENSP00000432858:K382N	.|ENSP00000316454:K846N	E|K	+|+	1|3	0|2	PACS1|PACS1	65765582|65765582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.952000|1.952000	0.40343|0.40343	0.789000|0.789000	0.33779|0.33779	0.655000|0.655000	0.94253|0.94253	GAA|AAG	PACS1	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000175115		0.632	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2	49	0.00	0	G	NM_018026		66009006	66009006	+1	no_errors	ENST00000320580	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	C
PALB2	79728	genome.wustl.edu	37	16	23634364	23634364	+	Silent	SNP	C	C	T	rs180177126|rs587776421		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:23634364C>T	ENST00000261584.4	-	9	3074	c.2922G>A	c.(2920-2922)aaG>aaA	p.K974K	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	974	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTAGCCTCCTCTTTGTCAGGC	0.398			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													158.0	144.0	149.0					16																	23634364		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2922G>A	16.37:g.23634364C>T			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	superfamily_WD40_repeat_dom	p.K974	ENST00000261584.4	37	c.2922	CCDS32406.1	16																																																																																			PALB2	-	superfamily_WD40_repeat_dom	ENSG00000083093		0.398	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	145	0.68	1	C	NM_024675		23634364	23634364	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	silent	109	35.50	60	SNP	0.512	T
PAPPA	5069	genome.wustl.edu	37	9	118973980	118973980	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:118973980G>A	ENST00000328252.3	+	4	2056	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	563	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CATGATCCATGAGATTGGTCA	0.532																																						dbGAP											0													133.0	110.0	118.0					9																	118973980		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1687G>A	9.37:g.118973980G>A	ENSP00000330658:p.Glu563Lys		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E563K	ENST00000328252.3	37	c.1687	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.719929	0.96839	.	.	ENSG00000182752	ENST00000328252	T	0.10382	2.88	5.64	5.64	0.86602	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	H	0.97682	4.055	0.80722	D	1	P	0.49783	0.928	P	0.56563	0.801	T	0.65232	-0.6218	10	0.87932	D	0	-26.1445	20.0666	0.97706	0.0:0.0:1.0:0.0	.	563	Q13219	PAPP1_HUMAN	K	563	ENSP00000330658:E563K	ENSP00000330658:E563K	E	+	1	0	PAPPA	118013801	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.743000	0.98849	2.826000	0.97356	0.561000	0.74099	GAG	PAPPA	-	pfam_Peptidase_M43	ENSG00000182752		0.532	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	78	0.00	0	G	NM_002581		118973980	118973980	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:176762724delC	ENST00000367662.3	+	20	6213	c.5049delC	c.(5047-5049)atcfs	p.I1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGTGTAATCCCCCCCAGTG	0.468																																						dbGAP											0													208.0	207.0	207.0					1																	176762724		1969	4150	6119	-	-	-	SO:0001589	frameshift_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5049delC	1.37:g.176762724delC	ENSP00000356634:p.Ile1683fs		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S1686fs	ENST00000367662.3	37	c.5049	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	223	0.00	0	C			176762724	176762724	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	frame_shift_del	260	26.69	95	DEL	0.506	-
PAQR6	79957	genome.wustl.edu	37	1	156214536	156214536	+	Intron	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:156214536delC	ENST00000292291.5	-	7	919				PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000356983.2_Frame_Shift_Del_p.G153fs|PAQR6_ENST00000335852.1_Frame_Shift_Del_p.G153fs|PAQR6_ENST00000492619.1_Intron|PAQR6_ENST00000368270.1_Intron	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCGGGCCGGGCCAGGCGTGCC	0.592																																					GBM(16;219 398 12385 32425 38531)	dbGAP											0													45.0	48.0	47.0					1																	156214536		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.760+15G>-	1.37:g.156214536delC			B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Frame_Shift_Del	DEL	pfam_HlyIII-related	p.G153fs	ENST00000292291.5	37	c.458	CCDS1136.1	1																																																																																			PAQR6	-	NULL	ENSG00000160781		0.592	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAQR6	HGNC	protein_coding	OTTHUMT00000046297.2	79	0.00	0	C	NM_024897		156214536	156214536	-1	no_errors	ENST00000335852	ensembl	human	known	69_37n	frame_shift_del	26	45.83	22	DEL	0.012	-
PARP15	165631	genome.wustl.edu	37	3	122354880	122354880	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:122354880C>T	ENST00000464300.2	+	12	2036	c.1970C>T	c.(1969-1971)cCa>cTa	p.P657L	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Missense_Mutation_p.P462L|PARP15_ENST00000493645.1_Missense_Mutation_p.P354L|PARP15_ENST00000310366.4_Missense_Mutation_p.P423L	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	657	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACACGATCTCCAAAGCTATTT	0.388																																						dbGAP											0													105.0	89.0	95.0					3																	122354880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1970C>T	3.37:g.122354880C>T	ENSP00000417214:p.Pro657Leu		J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.P657L	ENST00000464300.2	37	c.1970	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454336	0.63290	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	3.8	2.93	0.34026	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.52419	0.1733	H	0.97158	3.95	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.948;0.999;1.0;1.0;1.0	T	0.63120	-0.6708	9	0.87932	D	0	.	9.9485	0.41626	0.0:0.8973:0.0:0.1027	.	354;423;404;462;635	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	L	657;462;404;423;354	ENSP00000417214:P657L;ENSP00000417785:P462L;ENSP00000308436:P423L;ENSP00000419488:P354L	ENSP00000308436:P423L	P	+	2	0	PARP15	123837570	0.996000	0.38824	0.019000	0.16419	0.004000	0.04260	4.186000	0.58337	0.808000	0.34231	0.650000	0.86243	CCA	PARP15	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000173200		0.388	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	104	0.00	0	C	NM_152615		122354880	122354880	+1	no_errors	ENST00000464300	ensembl	human	known	69_37n	missense	30	57.14	40	SNP	0.989	T
PARP4	143	genome.wustl.edu	37	13	25033251	25033251	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:25033251C>G	ENST00000381989.3	-	20	2460	c.2355G>C	c.(2353-2355)ttG>ttC	p.L785F	PARP4_ENST00000480576.1_5'UTR	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	785					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)		TAGACATAGTCAAAGAGAAGC	0.308																																						dbGAP											0													83.0	84.0	83.0					13																	25033251		2202	4300	6502	-	-	-	SO:0001583	missense	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.2355G>C	13.37:g.25033251C>G	ENSP00000371419:p.Leu785Phe		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	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.L785F	ENST00000381989.3	37	c.2355	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723293	0.30503	.	.	ENSG00000102699	ENST00000381989	T	0.02236	4.38	4.48	3.53	0.40419	.	0.155184	0.44285	D	0.000476	T	0.09949	0.0244	M	0.76328	2.33	0.41592	D	0.988802	D	0.71674	0.998	D	0.83275	0.996	T	0.00339	-1.1805	10	0.62326	D	0.03	-12.1817	9.3034	0.37861	0.0:0.8829:0.0:0.1171	.	785	Q9UKK3	PARP4_HUMAN	F	785	ENSP00000371419:L785F	ENSP00000371419:L785F	L	-	3	2	PARP4	23931251	0.540000	0.26410	0.630000	0.29268	0.154000	0.21943	1.298000	0.33412	2.340000	0.79590	0.447000	0.29281	TTG	PARP4	-	NULL	ENSG00000102699		0.308	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	105	0.00	0	C	NM_006437		25033251	25033251	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	36	58.14	50	SNP	0.946	G
PCDHAC1	56135	genome.wustl.edu	37	5	140306817	140306817	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:140306817G>A	ENST00000253807.2	+	1	340	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V114I|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATTCACGTCCTGGACAC	0.622																																						dbGAP											0													61.0	56.0	57.0					5																	140306817		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.340G>A	5.37:g.140306817G>A	ENSP00000253807:p.Val114Ile		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V114I	ENST00000253807.2	37	c.340	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	G	2.904	-0.226840	0.06022	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.54866	0.55;0.58	5.48	2.17	0.27698	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.25232	0.0613	N	0.04994	-0.135	0.09310	N	0.999998	B;B	0.24132	0.022;0.098	B;B	0.21917	0.017;0.037	T	0.20207	-1.0282	9	0.02654	T	1	.	9.4607	0.38783	0.1211:0.2502:0.6287:0.0	.	114;114	Q9H158;Q9H158-2	PCDC1_HUMAN;.	I	114	ENSP00000386356:V114I;ENSP00000253807:V114I	ENSP00000253807:V114I	V	+	1	0	PCDHAC1	140287001	0.155000	0.22806	0.987000	0.45799	0.694000	0.40290	0.704000	0.25661	0.638000	0.30545	0.561000	0.74099	GTC	PCDHAC1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.622	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	34	0.00	0	G	NM_018898		140306817	140306817	+1	no_errors	ENST00000253807	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	0.148	A
PCDHB7	56129	genome.wustl.edu	37	5	140554310	140554310	+	Missense_Mutation	SNP	G	G	A	rs17844473	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:140554310G>A	ENST00000231137.3	+	1	2068	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	632	Cadherin 6. {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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.692																																						dbGAP											0													40.0	64.0	56.0					5																	140554310		2180	4280	6460	-	-	-	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1894G>A	5.37:g.140554310G>A	ENSP00000231137:p.Glu632Lys		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E632K	ENST00000231137.3	37	c.1894	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783625	0.90282	.	.	ENSG00000113212	ENST00000231137	T	0.50813	0.73	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71443	0.3340	M	0.86178	2.8	0.48236	D	0.999616	D	0.89917	1.0	D	0.78314	0.991	T	0.78841	-0.2045	9	0.87932	D	0	.	16.1064	0.81225	0.0:0.0:1.0:0.0	.	632	Q9Y5E2	PCDB7_HUMAN	K	632	ENSP00000231137:E632K	ENSP00000231137:E632K	E	+	1	0	PCDHB7	140534494	0.999000	0.42202	1.000000	0.80357	0.923000	0.55619	4.242000	0.58714	1.922000	0.55676	0.449000	0.29647	GAG	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113212		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	27	0.00	0	G	NM_018940		140554310	140554310	+1	no_errors	ENST00000231137	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	1.000	A
PCSK1	5122	genome.wustl.edu	37	5	95768600	95768600	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:95768600G>A	ENST00000311106.3	-	1	384	c.147C>T	c.(145-147)atC>atT	p.I49I	PCSK1_ENST00000508626.1_5'Flank|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	49					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCTCCTCGGCGATGGCCGAGG	0.582																																						dbGAP											0													60.0	70.0	67.0					5																	95768600		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.147C>T	5.37:g.95768600G>A			B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.I49	ENST00000311106.3	37	c.147	CCDS4081.1	5																																																																																			PCSK1	-	superfamily_Prot_inh_propept	ENSG00000175426		0.582	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	80	0.00	0	G	NM_000439		95768600	95768600	-1	no_errors	ENST00000311106	ensembl	human	known	69_37n	silent	40	39.39	26	SNP	0.995	A
PCDHGA4	56111	genome.wustl.edu	37	5	140736993	140736993	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:140736993C>T	ENST00000571252.1	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	742					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGACGGGG	0.617																																						dbGAP											0													61.0	65.0	64.0					5																	140736993		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2226C>T	5.37:g.140736993C>T			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G742	ENST00000571252.1	37	c.2226	CCDS58979.1	5																																																																																			PCDHGA4	-	NULL	ENSG00000262576		0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	97	0.00	0	C	NM_018917		140736993	140736993	+1	no_errors	ENST00000571252	ensembl	human	known	69_37n	silent	49	38.75	31	SNP	0.723	T
PDIA2	64714	genome.wustl.edu	37	16	336659	336659	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:336659C>T	ENST00000219406.6	+	9	1364	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	PDIA2_ENST00000404312.1_Missense_Mutation_p.T446M	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	449	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGGATGCCACGGCCAACGAG	0.612																																						dbGAP											0													45.0	48.0	47.0					16																	336659		2159	4242	6401	-	-	-	SO:0001583	missense	0			U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1346C>T	16.37:g.336659C>T	ENSP00000219406:p.Thr449Met		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase	p.T449M	ENST00000219406.6	37	c.1346	CCDS42089.1	16	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980550	0.53827	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.19250	2.16;2.16;3.79	4.58	4.58	0.56647	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.057129	0.64402	D	0.000002	T	0.55561	0.1928	M	0.91612	3.225	0.49389	D	0.999784	D	0.89917	1.0	D	0.91635	0.999	T	0.68300	-0.5445	10	0.87932	D	0	.	16.156	0.81666	0.0:1.0:0.0:0.0	.	449	Q13087	PDIA2_HUMAN	M	449;418;446;78	ENSP00000219406:T449M;ENSP00000384410:T446M;ENSP00000405081:T78M	ENSP00000219406:T449M	T	+	2	0	PDIA2	276660	0.998000	0.40836	0.980000	0.43619	0.333000	0.28666	3.788000	0.55446	2.116000	0.64780	0.486000	0.48141	ACG	PDIA2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000185615		0.612	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDIA2	HGNC	protein_coding	OTTHUMT00000139315.3	41	0.00	0	C	NM_006849		336659	336659	+1	no_errors	ENST00000219406	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	0.998	T
PER2	8864	genome.wustl.edu	37	2	239155114	239155114	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:239155114C>T	ENST00000254657.3	-	23	3949	c.3670G>A	c.(3670-3672)Gag>Aag	p.E1224K	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1224	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ATATCTTCCTCATATGGTATG	0.388																																						dbGAP											0													93.0	80.0	84.0					2																	239155114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3670G>A	2.37:g.239155114C>T	ENSP00000254657:p.Glu1224Lys		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E1224K	ENST00000254657.3	37	c.3670	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537666	0.85917	.	.	ENSG00000132326	ENST00000254657	T	0.12984	2.63	5.03	5.03	0.67393	Period circadian-like, C-terminal (1);	0.774592	0.10635	N	0.651718	T	0.30696	0.0773	M	0.72118	2.19	0.80722	D	1	P	0.51240	0.943	P	0.52066	0.689	T	0.01643	-1.1305	10	0.39692	T	0.17	-28.717	16.2353	0.82366	0.0:1.0:0.0:0.0	.	1224	O15055	PER2_HUMAN	K	1224	ENSP00000254657:E1224K	ENSP00000254657:E1224K	E	-	1	0	PER2	238819853	0.714000	0.27936	0.301000	0.25044	0.248000	0.25809	2.298000	0.43602	2.504000	0.84457	0.655000	0.94253	GAG	PER2	-	pfam_Period_circadian-like_C	ENSG00000132326		0.388	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	96	0.00	0	C	NM_022817		239155114	239155114	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	missense	57	35.23	31	SNP	0.700	T
PEX5	5830	genome.wustl.edu	37	12	7343048	7343048	+	Silent	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:7343048C>A	ENST00000455147.2	+	3	655	c.75C>A	c.(73-75)acC>acA	p.T25T	RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000420616.2_Silent_p.T25T|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000266563.5_Silent_p.T25T|PEX5_ENST00000434354.2_Silent_p.T25T|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000412720.2_Silent_p.T46T|PEX5_ENST00000266564.3_Silent_p.T25T	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	25					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGCACTTCACCCAGGACAAGG	0.667																																						dbGAP											0													44.0	49.0	47.0					12																	7343048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.75C>A	12.37:g.7343048C>A			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T25	ENST00000455147.2	37	c.75	CCDS44823.1	12																																																																																			PEX5	-	NULL	ENSG00000139197		0.667	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	77	0.00	0	C	NM_000319		7343048	7343048	+1	no_errors	ENST00000434354	ensembl	human	known	69_37n	silent	31	49.18	30	SNP	1.000	A
PHACTR1	221692	genome.wustl.edu	37	6	13286408	13286408	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:13286408A>G	ENST00000379335.3	+	4	478	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E	PHACTR1_ENST00000457702.2_Missense_Mutation_p.K416E|RP1-257A7.4_ENST00000606150.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000332995.7_Missense_Mutation_p.K561E			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	561					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAATGAATTCAAAAGCACTGA	0.378																																						dbGAP											0													71.0	79.0	77.0					6																	13286408		1854	4095	5949	-	-	-	SO:0001583	missense	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.373A>G	6.37:g.13286408A>G	ENSP00000368639:p.Lys125Glu		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.K125E	ENST00000379335.3	37	c.373		6	.	.	.	.	.	.	.	.	.	.	A	32	5.181732	0.94885	.	.	ENSG00000112137	ENST00000332995;ENST00000457702;ENST00000379335	T;T	0.61158	0.13;0.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	H	0.94542	3.55	0.80722	D	1	D	0.59767	0.986	P	0.56960	0.81	D	0.83641	0.0150	10	0.87932	D	0	-21.3404	16.0034	0.80327	1.0:0.0:0.0:0.0	.	561	Q9C0D0	PHAR1_HUMAN	E	561;416;125	ENSP00000329880:K561E;ENSP00000397669:K416E	ENSP00000329880:K561E	K	+	1	0	PHACTR1	13394387	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAA	PHACTR1	-	NULL	ENSG00000112137		0.378	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039878.1	105	0.00	0	A	XM_166420		13286408	13286408	+1	no_errors	ENST00000379335	ensembl	human	known	69_37n	missense	116	14.07	19	SNP	1.000	G
PHF2	5253	genome.wustl.edu	37	9	96439925	96439925	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:96439925G>A	ENST00000359246.4	+	22	3625	c.3258G>A	c.(3256-3258)ttG>ttA	p.L1086L	PHF2_ENST00000375376.4_Silent_p.L317L	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	1086					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGAAAATTTTGAAAATTCATC	0.527																																						dbGAP											0													100.0	117.0	111.0					9																	96439925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.3258G>A	9.37:g.96439925G>A			Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.L1086	ENST00000359246.4	37	c.3258	CCDS35069.1	9																																																																																			PHF2	-	NULL	ENSG00000197724		0.527	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	89	0.00	0	G	NM_005392		96439925	96439925	+1	no_errors	ENST00000359246	ensembl	human	known	69_37n	silent	39	33.90	20	SNP	1.000	A
PHIP	55023	genome.wustl.edu	37	6	79725353	79725353	+	Silent	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:79725353G>C	ENST00000275034.4	-	14	1550	c.1383C>G	c.(1381-1383)gtC>gtG	p.V461V		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	461					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACCATCAGGACATGAATTA	0.323																																						dbGAP											0													116.0	113.0	114.0					6																	79725353		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1383C>G	6.37:g.79725353G>C			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.V461	ENST00000275034.4	37	c.1383	CCDS4987.1	6																																																																																			PHIP	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000146247		0.323	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	122	0.81	1	G			79725353	79725353	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	silent	51	70.00	119	SNP	1.000	C
PIAS4	51588	genome.wustl.edu	37	19	4028789	4028789	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:4028789C>T	ENST00000262971.2	+	6	859	c.744C>T	c.(742-744)ctC>ctT	p.L248L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	248	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCCACCTCATGTACCTGT	0.672																																						dbGAP											0													97.0	84.0	89.0					19																	4028789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.744C>T	19.37:g.4028789C>T			O75926|Q96G19|Q9UN16	Silent	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.L248	ENST00000262971.2	37	c.744	CCDS12118.1	19																																																																																			PIAS4	-	NULL	ENSG00000105229		0.672	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	88	0.00	0	C	NM_015897		4028789	4028789	+1	no_errors	ENST00000262971	ensembl	human	known	69_37n	silent	12	36.84	7	SNP	1.000	T
PIK3CB	5291	genome.wustl.edu	37	3	138403593	138403593	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:138403593G>A	ENST00000477593.1	-	16	2262	c.2189C>T	c.(2188-2190)gCc>gTc	p.A730V	PIK3CB_ENST00000544716.1_Missense_Mutation_p.A176V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.A730V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	730					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TAACTTCACGGCATTCAGTTT	0.398																																						dbGAP											0													119.0	111.0	114.0					3																	138403593		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2189C>T	3.37:g.138403593G>A	ENSP00000418143:p.Ala730Val		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.A730V	ENST00000477593.1	37	c.2189	CCDS3104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.074733|4.074733	0.76415|0.76415	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.80480|.	-1.38;-1.38;-1.38|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Protein kinase-like domain (1);|.	0.105878|.	0.64402|.	D|.	0.000004|.	T|T	0.55353|0.55353	0.1915|0.1915	N|N	0.20685|0.20685	0.6|0.6	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33135|.	0.399;0.129;0.067|.	B;B;B|.	0.29353|.	0.101;0.045;0.007|.	T|T	0.48080|0.48080	-0.9066|-0.9066	10|5	0.33141|.	T|.	0.24|.	-13.1618|-13.1618	19.9987|19.9987	0.97401|0.97401	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	730;317;176|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	V|S	730;176;730|362	ENSP00000418143:A730V;ENSP00000438259:A176V;ENSP00000289153:A730V|.	ENSP00000289153:A730V|.	A|P	-|-	2|1	0|0	PIK3CB|PIK3CB	139886283|139886283	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.937000|0.937000	0.57800|0.57800	9.588000|9.588000	0.98232|0.98232	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GCC|CCG	PIK3CB	-	superfamily_Kinase-like_dom	ENSG00000051382		0.398	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	94	0.00	0	G			138403593	138403593	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	missense	43	41.10	30	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	92	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	28	58.21	39	SNP	1.000	A
PLB1	151056	genome.wustl.edu	37	2	28771790	28771790	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:28771790C>T	ENST00000327757.5	+	15	1044	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	PLB1_ENST00000329020.6_Missense_Mutation_p.P22S|PLB1_ENST00000422425.2_Missense_Mutation_p.P345S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	334	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AATGAAGTGTCCCTCTCAGGT	0.532																																						dbGAP											0													71.0	66.0	67.0					2																	28771790		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1000C>T	2.37:g.28771790C>T	ENSP00000330442:p.Pro334Ser		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.P345S	ENST00000327757.5	37	c.1033	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562274	0.86335	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.18502	2.41;2.21;2.49;2.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.995	D;D;D	0.91635	0.999;0.967;0.979	T	0.60021	-0.7344	10	0.72032	D	0.01	-26.6377	15.4191	0.74997	0.0:1.0:0.0:0.0	.	345;22;334	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	S	334;345;44;22	ENSP00000330442:P334S;ENSP00000416440:P345S;ENSP00000392493:P44S;ENSP00000330729:P22S	ENSP00000330442:P334S	P	+	1	0	PLB1	28625294	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.354000	0.52254	2.712000	0.92718	0.561000	0.74099	CCC	PLB1	-	NULL	ENSG00000163803		0.532	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	73	0.00	0	C			28771790	28771790	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	1.000	T
PLEKHG2	64857	genome.wustl.edu	37	19	39913648	39913648	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:39913648G>A	ENST00000409794.3	+	18	2804	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E623K|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E593K|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	652					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAAATTCCCGAAGGTTCTCG	0.517																																						dbGAP											0													93.0	98.0	96.0					19																	39913648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1954G>A	19.37:g.39913648G>A	ENSP00000386733:p.Glu652Lys		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E652K	ENST00000409794.3	37	c.1954	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	G	5.008	0.187101	0.09547	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.68624	-0.2;-0.22;-0.34	4.4	-8.81	0.00813	.	1.807080	0.03162	N	0.169402	T	0.35248	0.0925	N	0.04508	-0.205	0.25189	N	0.990144	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.12578	-1.0542	10	0.26408	T	0.33	.	4.1862	0.10398	0.5095:0.2677:0.1405:0.0823	.	623;652;593	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	K	652;623;593	ENSP00000386733:E652K;ENSP00000392906:E623K;ENSP00000408857:E593K	ENSP00000386733:E652K	E	+	1	0	PLEKHG2	44605488	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.993000	0.03720	-1.001000	0.03434	-0.363000	0.07495	GAA	PLEKHG2	-	NULL	ENSG00000090924		0.517	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	35	0.00	0	G	NM_022835		39913648	39913648	+1	no_errors	ENST00000409794	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.001	A
PLEKHH2	130271	genome.wustl.edu	37	2	43871929	43871929	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:43871929A>G	ENST00000282406.4	+	2	227	c.117A>G	c.(115-117)gcA>gcG	p.A39A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	39					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTTTTAGCAGAGAAGGTAA	0.398																																						dbGAP											0													86.0	81.0	82.0					2																	43871929		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.117A>G	2.37:g.43871929A>G			Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.A39	ENST00000282406.4	37	c.117	CCDS1812.1	2																																																																																			PLEKHH2	-	NULL	ENSG00000152527		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	89	0.00	0	A	NM_172069		43871929	43871929	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	silent	49	42.35	36	SNP	1.000	G
PLIN1	5346	genome.wustl.edu	37	15	90214720	90214720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:90214720delG	ENST00000300055.5	-	4	491	c.326delC	c.(325-327)cctfs	p.P109fs	PLIN1_ENST00000430628.2_Frame_Shift_Del_p.P109fs	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	109					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CACCTTTTCAGGGGGGTACTG	0.627																																						dbGAP											0													22.0	22.0	22.0					15																	90214720		2194	4291	6485	-	-	-	SO:0001589	frameshift_variant	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.326delC	15.37:g.90214720delG	ENSP00000300055:p.Pro109fs		Q8N5Y6	Frame_Shift_Del	DEL	pfam_Perilipin,pirsf_Perilipin	p.P109fs	ENST00000300055.5	37	c.326	CCDS10353.1	15																																																																																			PLIN1	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000166819		0.627	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN1	HGNC	protein_coding	OTTHUMT00000313424.2	41	0.00	0	G	NM_002666		90214720	90214720	-1	no_errors	ENST00000300055	ensembl	human	known	69_37n	frame_shift_del	4	42.86	3	DEL	0.988	-
PLVAP	83483	genome.wustl.edu	37	19	17487862	17487862	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:17487862G>A	ENST00000252590.4	-	1	297	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	79					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGACTGGGAGGCCGTGAGCCC	0.612																																						dbGAP											0													121.0	102.0	109.0					19																	17487862		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.236C>T	19.37:g.17487862G>A	ENSP00000252590:p.Ala79Val		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.A79V	ENST00000252590.4	37	c.236	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517183	0.64634	.	.	ENSG00000130300	ENST00000252590	T	0.28454	1.61	4.77	2.39	0.29439	.	0.397832	0.25503	N	0.030236	T	0.35480	0.0933	L	0.32530	0.975	0.09310	N	0.999994	D	0.67145	0.996	D	0.65233	0.933	T	0.04347	-1.0958	10	0.39692	T	0.17	-23.2896	7.2772	0.26292	0.0:0.1881:0.6177:0.1942	.	79	Q9BX97	PLVAP_HUMAN	V	79	ENSP00000252590:A79V	ENSP00000252590:A79V	A	-	2	0	PLVAP	17348862	0.707000	0.27866	0.112000	0.21494	0.032000	0.12392	2.039000	0.41193	1.102000	0.41551	0.561000	0.74099	GCC	PLVAP	-	pfam_PV-1	ENSG00000130300		0.612	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	105	0.00	0	G	NM_031310		17487862	17487862	-1	no_errors	ENST00000252590	ensembl	human	known	69_37n	missense	80	31.03	36	SNP	0.245	A
PLXNC1	10154	genome.wustl.edu	37	12	94634314	94634314	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:94634314C>G	ENST00000258526.4	+	11	2423	c.2174C>G	c.(2173-2175)tCa>tGa	p.S725*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	725					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCTTCCATCAAGCCGGAAA	0.433																																						dbGAP											0													260.0	235.0	244.0					12																	94634314		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2174C>G	12.37:g.94634314C>G	ENSP00000258526:p.Ser725*		Q59H25	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S725*	ENST00000258526.4	37	c.2174	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	C	42	9.614326	0.99220	.	.	ENSG00000136040	ENST00000258526	.	.	.	5.61	4.72	0.59763	.	0.659667	0.15350	N	0.267038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.4607	0.55731	0.0:0.9223:0.0:0.0777	.	.	.	.	X	725	.	ENSP00000258526:S725X	S	+	2	0	PLXNC1	93158445	0.997000	0.39634	0.867000	0.34043	0.976000	0.68499	2.922000	0.48860	1.502000	0.48669	0.655000	0.94253	TCA	PLXNC1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set	ENSG00000136040		0.433	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	185	0.00	0	C			94634314	94634314	+1	no_errors	ENST00000258526	ensembl	human	known	69_37n	nonsense	132	34.98	71	SNP	0.973	G
PNISR	25957	genome.wustl.edu	37	6	99849343	99849343	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:99849343delT	ENST00000369239.5	-	12	1695	c.1491delA	c.(1489-1491)aaafs	p.K497fs	PNISR_ENST00000438806.1_Frame_Shift_Del_p.K497fs	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	497						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTTATGCTCTTTTTTTGGTT	0.373																																						dbGAP											0													95.0	96.0	96.0					6																	99849343		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1491delA	6.37:g.99849343delT	ENSP00000358242:p.Lys497fs		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	NULL	p.E498fs	ENST00000369239.5	37	c.1491	CCDS5043.1	6																																																																																			PNISR	-	NULL	ENSG00000132424		0.373	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	155	0.00	0	T	NM_032870		99849343	99849343	-1	no_errors	ENST00000369239	ensembl	human	known	69_37n	frame_shift_del	128	31.05	59	DEL	1.000	-
PNKP	11284	genome.wustl.edu	37	19	50367244	50367244	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:50367244C>G	ENST00000322344.3	-	7	830	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	PNKP_ENST00000600910.1_Missense_Mutation_p.E241Q|PNKP_ENST00000600573.1_Missense_Mutation_p.E241Q|PNKP_ENST00000595792.1_5'Flank|PNKP_ENST00000596014.1_Missense_Mutation_p.E241Q	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	241	Phosphatase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCCAGCTTCTCCACCACAGCC	0.617								Other BER factors																														dbGAP											0													40.0	37.0	38.0					19																	50367244		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.721G>C	19.37:g.50367244C>G	ENSP00000323511:p.Glu241Gln		Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	p.E241Q	ENST00000322344.3	37	c.721	CCDS12783.1	19	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457565	0.43634	.	.	ENSG00000039650	ENST00000322344	T	0.65732	-0.17	5.69	4.62	0.57501	HAD-like domain (2);Polynucleotide kinase 3 phosphatase, central region (1);	0.328242	0.27821	N	0.017705	T	0.42720	0.1215	N	0.17474	0.49	0.32934	D	0.517566	B;B	0.18166	0.026;0.014	B;B	0.17433	0.008;0.018	T	0.45352	-0.9267	10	0.13853	T	0.58	-46.4703	12.1585	0.54091	0.1695:0.8305:0.0:0.0	.	202;241	Q9BUL2;Q96T60	.;PNKP_HUMAN	Q	241	ENSP00000323511:E241Q	ENSP00000323511:E241Q	E	-	1	0	PNKP	55059056	0.985000	0.35326	0.998000	0.56505	0.988000	0.76386	1.241000	0.32743	2.679000	0.91253	0.655000	0.94253	GAG	PNKP	-	pfam_PNK3P,superfamily_HAD-like_dom,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA	ENSG00000039650		0.617	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNKP	HGNC	protein_coding	OTTHUMT00000465830.1	68	0.00	0	C	NM_007254		50367244	50367244	-1	no_errors	ENST00000322344	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	G
PNMA3	29944	genome.wustl.edu	37	X	152226242	152226242	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:152226242G>C	ENST00000370264.4	+	1	856	c.830G>C	c.(829-831)aGa>aCa	p.R277T	PNMA3_ENST00000370265.4_Missense_Mutation_p.R277T|PNMA3_ENST00000447306.1_Missense_Mutation_p.R277T			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	277					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ctgctccaaagagctgtagaa	0.468																																						dbGAP											0													130.0	120.0	124.0					X																	152226242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.830G>C	X.37:g.152226242G>C	ENSP00000359286:p.Arg277Thr		D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.R277T	ENST00000370264.4	37	c.830	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	g	9.892	1.204516	0.22205	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.10192	2.9;2.9;2.9	1.98	-2.51	0.06365	.	.	.	.	.	T	0.09335	0.0230	L	0.39898	1.24	0.09310	N	1	P	0.43352	0.804	P	0.44860	0.462	T	0.13415	-1.0510	9	0.52906	T	0.07	.	2.8387	0.05523	0.5162:0.0:0.2645:0.2193	.	277	Q9UL41	PNMA3_HUMAN	T	277	ENSP00000359288:R277T;ENSP00000407642:R277T;ENSP00000359286:R277T	ENSP00000359286:R277T	R	+	2	0	PNMA3	151976898	0.017000	0.18338	0.000000	0.03702	0.005000	0.04900	-0.965000	0.03829	-0.985000	0.03503	-0.554000	0.04202	AGA	PNMA3	-	NULL	ENSG00000183837		0.468	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	112	0.00	0	G	NM_013364		152226242	152226242	+1	no_errors	ENST00000370264	ensembl	human	known	69_37n	missense	40	48.05	37	SNP	0.000	C
PODXL	5420	genome.wustl.edu	37	7	131189073	131189073	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:131189073G>T	ENST00000378555.3	-	9	1921	c.1674C>A	c.(1672-1674)ctC>ctA	p.L558L	PODXL_ENST00000537928.1_Silent_p.L526L|PODXL_ENST00000322985.9_Silent_p.L526L|PODXL_ENST00000541194.1_Silent_p.L560L			O00592	PODXL_HUMAN	podocalyxin-like	558					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GACCGGACTAGAGGTGTGTGT	0.617																																						dbGAP											0													87.0	69.0	75.0					7																	131189073		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1674C>A	7.37:g.131189073G>T			A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.L560	ENST00000378555.3	37	c.1680	CCDS34755.1	7																																																																																			PODXL	-	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	ENSG00000128567		0.617	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	59	0.00	0	G	NM_001018111		131189073	131189073	-1	no_errors	ENST00000541194	ensembl	human	known	69_37n	silent	33	37.74	20	SNP	1.000	T
POGLUT1	56983	genome.wustl.edu	37	3	119209419	119209419	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:119209419C>T	ENST00000295588.4	+	9	903	c.819C>T	c.(817-819)ggC>ggT	p.G273G		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	273					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ATTTTCGAGGCGTAGCTGCAA	0.413																																						dbGAP											0													174.0	162.0	166.0					3																	119209419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.819C>T	3.37:g.119209419C>T			B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.G273	ENST00000295588.4	37	c.819	CCDS2988.1	3																																																																																			POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000163389		0.413	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2	230	0.00	0	C	NM_152305		119209419	119209419	+1	no_errors	ENST00000295588	ensembl	human	known	69_37n	silent	167	20.00	42	SNP	0.989	T
PON1	5444	genome.wustl.edu	37	7	94935641	94935641	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:94935641G>A	ENST00000222381.3	-	7	967	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	PON1_ENST00000542556.1_Missense_Mutation_p.H246Y	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	246					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TCATACACATGAATCTTATGA	0.338																																					GBM(119;715 1622 17358 22490 33240)	dbGAP											0													147.0	144.0	145.0					7																	94935641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.736C>T	7.37:g.94935641G>A	ENSP00000222381:p.His246Tyr		B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1	p.H246Y	ENST00000222381.3	37	c.736	CCDS5638.1	7	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812837	0.50527	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.42131	0.98;0.98	4.95	4.05	0.47172	Six-bladed beta-propeller, TolB-like (1);	0.151282	0.64402	D	0.000015	T	0.43100	0.1232	L	0.41492	1.28	0.44432	D	0.99735	P;B	0.35780	0.52;0.402	B;B	0.43508	0.422;0.404	T	0.42916	-0.9423	10	0.49607	T	0.09	-12.9063	15.0319	0.71713	0.0:0.0:0.8565:0.1435	.	246;246	F5H4W9;P27169	.;PON1_HUMAN	Y	246	ENSP00000222381:H246Y;ENSP00000444854:H246Y	ENSP00000222381:H246Y	H	-	1	0	PON1	94773577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.394000	0.44450	1.414000	0.47017	0.561000	0.74099	CAT	PON1	-	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase	ENSG00000005421		0.338	PON1-001	KNOWN	basic|CCDS	protein_coding	PON1	HGNC	protein_coding	OTTHUMT00000332865.2	89	0.00	0	G	NM_000446		94935641	94935641	-1	no_errors	ENST00000222381	ensembl	human	known	69_37n	missense	88	29.60	37	SNP	1.000	A
POU4F1	5457	genome.wustl.edu	37	13	79175724	79175724	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:79175724G>A	ENST00000377208.5	-	2	1297	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	362					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGGGCGCGGCGATGGAAGTCC	0.657																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	dbGAP											0													39.0	44.0	42.0					13																	79175724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1086C>T	13.37:g.79175724G>A			Q14986|Q15318|Q5T227	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.I362	ENST00000377208.5	37	c.1086	CCDS31996.1	13																																																																																			POU4F1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000152192		0.657	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F1	HGNC	protein_coding	OTTHUMT00000045360.3	78	0.00	0	G			79175724	79175724	-1	no_errors	ENST00000377208	ensembl	human	known	69_37n	silent	11	50.00	12	SNP	1.000	A
POU5F1B	5462	genome.wustl.edu	37	8	128429115	128429115	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:128429115C>G	ENST00000465342.2	+	2	2161	c.1004C>G	c.(1003-1005)tCa>tGa	p.S335*	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Nonsense_Mutation_p.S335*|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						CTGTACTCCTCAGTCCCTTTC	0.587																																						dbGAP											0													44.0	40.0	41.0					8																	128429115		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.1004C>G	8.37:g.128429115C>G	ENSP00000419298:p.Ser335*		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific	p.S335*	ENST00000465342.2	37	c.1004	CCDS55274.1	8	.	.	.	.	.	.	.	.	.	.	C	44	10.710113	0.99454	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	.	.	.	1.13	0.168	0.15012	.	0.421442	0.20240	N	0.096306	.	.	.	.	.	.	0.50171	D	0.999859	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.6915	0.08347	0.0:0.7288:0.0:0.2712	.	.	.	.	X	335	.	ENSP00000375557:S335X	S	+	2	0	POU5F1B	128498297	0.000000	0.05858	0.205000	0.23548	0.200000	0.23975	0.162000	0.16501	0.068000	0.16574	0.121000	0.15741	TCA	POU5F1B	-	NULL	ENSG00000212993		0.587	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	101	0.00	0	C	NM_001159542		128429115	128429115	+1	no_errors	ENST00000391675	ensembl	human	known	69_37n	nonsense	33	56.00	42	SNP	0.043	G
PPP1R9A	55607	genome.wustl.edu	37	7	94539589	94539589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:94539589delG	ENST00000433881.1	+	2	696	c.164delG	c.(163-165)aggfs	p.R55fs	PPP1R9A_ENST00000289495.5_Frame_Shift_Del_p.R55fs|PPP1R9A_ENST00000456331.2_Frame_Shift_Del_p.R55fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Del_p.R55fs|PPP1R9A_ENST00000433360.1_Frame_Shift_Del_p.R55fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Del_p.R55fs			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	55	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGCAGAGCAGGGGGAGGAAA	0.448										HNSCC(28;0.073)																												dbGAP											0													56.0	53.0	54.0					7																	94539589		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.164delG	7.37:g.94539589delG	ENSP00000398870:p.Arg55fs		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Frame_Shift_Del	DEL	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.R57fs	ENST00000433881.1	37	c.164	CCDS34683.1	7																																																																																			PPP1R9A	-	NULL	ENSG00000158528		0.448	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	50	0.00	0	G	NM_001166160		94539589	94539589	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	frame_shift_del	25	34.21	13	DEL	1.000	-
PRICKLE1	144165	genome.wustl.edu	37	12	42854279	42854279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:42854279C>A	ENST00000455697.1	-	8	2113	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*	PRICKLE1_ENST00000548696.1_Nonsense_Mutation_p.E610*|PRICKLE1_ENST00000552240.1_Nonsense_Mutation_p.E610*|PRICKLE1_ENST00000445766.2_Nonsense_Mutation_p.E610*|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Nonsense_Mutation_p.E610*	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	610					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGCTTCTCTTCAGGCAGGATT	0.463																																						dbGAP											0													118.0	113.0	114.0					12																	42854279		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1828G>T	12.37:g.42854279C>A	ENSP00000401060:p.Glu610*		Q14C83|Q71QF8|Q96N00	Nonsense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E610*	ENST00000455697.1	37	c.1828	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.052782	0.98029	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	.	.	.	5.53	3.68	0.42216	.	0.285631	0.38663	N	0.001603	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	1.4451	11.7471	0.51825	0.0:0.8572:0.0:0.1428	.	.	.	.	X	610	.	ENSP00000345064:E610X	E	-	1	0	PRICKLE1	41140546	0.983000	0.35010	0.040000	0.18447	0.988000	0.76386	3.013000	0.49582	1.465000	0.48006	0.650000	0.86243	GAA	PRICKLE1	-	NULL	ENSG00000139174		0.463	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	91	0.00	0	C			42854279	42854279	-1	no_errors	ENST00000345127	ensembl	human	known	69_37n	nonsense	69	37.84	42	SNP	0.024	A
PRKCD	5580	genome.wustl.edu	37	3	53213754	53213754	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:53213754G>A	ENST00000394729.2	+	3	605	c.277G>A	c.(277-279)Gag>Aag	p.E93K	PRKCD_ENST00000330452.3_Missense_Mutation_p.E93K	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	93					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GGTGCTGGCCGAGCGCTGCAA	0.602																																						dbGAP											0													109.0	57.0	75.0					3																	53213754		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.277G>A	3.37:g.53213754G>A	ENSP00000378217:p.Glu93Lys		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E93K	ENST00000394729.2	37	c.277	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.837829	0.97009	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.83755	-0.49;-0.49;-1.76	4.97	4.97	0.65823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	M	0.82517	2.595	0.80722	D	1	D;D	0.76494	0.999;0.98	D;B	0.74674	0.984;0.407	D	0.91682	0.5359	9	.	.	.	.	17.1648	0.86812	0.0:0.0:1.0:0.0	.	93;93	C9K0E3;Q05655	.;KPCD_HUMAN	K	93	ENSP00000378217:E93K;ENSP00000331602:E93K;ENSP00000419629:E93K	.	E	+	1	0	PRKCD	53188794	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.657000	0.98554	2.578000	0.87016	0.655000	0.94253	GAG	PRKCD	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta	ENSG00000163932		0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	45	0.00	0	G			53213754	53213754	+1	no_errors	ENST00000330452	ensembl	human	known	69_37n	missense	14	60.00	21	SNP	1.000	A
PRKD2	25865	genome.wustl.edu	37	19	47192823	47192823	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:47192823C>T	ENST00000291281.4	-	14	2167	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	PRKD2_ENST00000600194.1_Missense_Mutation_p.E491K|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.E648K|PRKD2_ENST00000433867.1_Missense_Mutation_p.E648K|PRKD2_ENST00000601806.1_Missense_Mutation_p.E491K			Q9BZL6	KPCD2_HUMAN	protein kinase D2	648	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTGAGGCGCTCAGGCAGCCGG	0.607																																						dbGAP											0													111.0	94.0	100.0					19																	47192823		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1942G>A	19.37:g.47192823C>T	ENSP00000291281:p.Glu648Lys		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,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,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E648K	ENST00000291281.4	37	c.1942	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.639839	0.96693	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.84944	-1.92;-1.92	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.93569	0.7947	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.992;0.998	D	0.94644	0.7833	10	0.87932	D	0	-27.5346	17.5691	0.87930	0.0:1.0:0.0:0.0	.	648;133;648	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	K	648	ENSP00000291281:E648K;ENSP00000393978:E648K	ENSP00000291281:E648K	E	-	1	0	PRKD2	51884663	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	7.688000	0.84153	2.506000	0.84524	0.655000	0.94253	GAG	PRKD2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105287		0.607	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	113	0.00	0	C	NM_016457		47192823	47192823	-1	no_errors	ENST00000291281	ensembl	human	known	69_37n	missense	70	35.19	38	SNP	1.000	T
PRKD3	23683	genome.wustl.edu	37	2	37499526	37499526	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:37499526A>G	ENST00000379066.1	-	12	2463	c.1701T>C	c.(1699-1701)aaT>aaC	p.N567N	PRKD3_ENST00000234179.2_Silent_p.N567N			O94806	KPCD3_HUMAN	protein kinase D3	567					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)				TACTTACCACATTCTCCTGAA	0.274																																					Melanoma(80;621 1355 8613 11814 51767)	dbGAP											0													38.0	41.0	40.0					2																	37499526		2198	4291	6489	-	-	-	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.1701T>C	2.37:g.37499526A>G			D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M14T	ENST00000379066.1	37	c.41	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	A	9.731	1.162389	0.21538	.	.	ENSG00000115825	ENST00000452104	.	.	.	5.34	2.99	0.34606	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52049	-0.8627	4	.	.	.	-24.3685	9.3289	0.38010	0.8551:0.0:0.1449:0.0	.	.	.	.	T	14	.	.	M	-	2	0	PRKD3	37353030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.191000	0.42640	0.443000	0.26582	0.533000	0.62120	ATG	PRKD3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000115825		0.274	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	51	0.00	0	A	NM_005813		37499526	37499526	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000452104	ensembl	human	novel	69_37n	missense	48	33.33	24	SNP	1.000	G
PRLR	5618	genome.wustl.edu	37	5	35065595	35065595	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:35065595C>T	ENST00000382002.5	-	10	1891	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D388N|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D388N|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	489					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CAGGGCGTATCCTGGTCAGTC	0.478																																						dbGAP											0													94.0	103.0	100.0					5																	35065595		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1465G>A	5.37:g.35065595C>T	ENSP00000371432:p.Asp489Asn		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D489N	ENST00000382002.5	37	c.1465	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006437	0.07773	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87809	-2.3;-1.37;-2.3	5.8	4.71	0.59529	.	0.596528	0.18432	N	0.141419	D	0.82811	0.5118	L	0.60845	1.875	0.09310	N	1	B;B	0.16166	0.005;0.016	B;B	0.15484	0.012;0.013	T	0.69971	-0.5000	10	0.30854	T	0.27	-8.5364	8.2398	0.31654	0.0:0.7256:0.0:0.2744	.	489;388	P16471;P16471-2	PRLR_HUMAN;.	N	388;489;388	ENSP00000339213:D388N;ENSP00000371432:D489N;ENSP00000422556:D388N	ENSP00000339213:D388N	D	-	1	0	PRLR	35101352	0.897000	0.30589	0.017000	0.16124	0.013000	0.08279	1.824000	0.39072	1.122000	0.41944	0.655000	0.94253	GAT	PRLR	-	NULL	ENSG00000113494		0.478	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	97	0.00	0	C			35065595	35065595	-1	no_errors	ENST00000382002	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	0.046	T
PROSC	11212	genome.wustl.edu	37	8	37630348	37630348	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:37630348G>C	ENST00000328195.3	+	5	462	c.395G>C	c.(394-396)aGa>aCa	p.R132T		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	132					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	TCCTGGCAGAGAAAAGGTTCT	0.433																																						dbGAP											0													127.0	121.0	123.0					8																	37630348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.395G>C	8.37:g.37630348G>C	ENSP00000333551:p.Arg132Thr		Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.R132T	ENST00000328195.3	37	c.395	CCDS6096.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.27|15.27	2.783456|2.783456	0.49891|0.49891	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000521494|ENST00000328195;ENST00000523358;ENST00000523187;ENST00000523521	.|T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Alanine racemase, N-terminal (1);	.|0.054481	.|0.64402	.|D	.|0.000001	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.38649|0.38649	1.16|1.16	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.14023	.|0.01	T|T	0.06006|0.06006	-1.0851|-1.0851	5|10	.|0.46703	.|T	.|0.11	-20.235|-20.235	11.7821|11.7821	0.52021|0.52021	0.931:0.0:0.069:0.0|0.931:0.0:0.069:0.0	.|.	.|132	.|O94903	.|PROSC_HUMAN	Q|T	101|132;132;80;51	.|ENSP00000333551:R132T;ENSP00000427778:R132T;ENSP00000427886:R80T;ENSP00000429425:R51T	.|ENSP00000333551:R132T	E|R	+|+	1|2	0|0	PROSC|PROSC	37749506|37749506	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.948000|0.948000	0.59901|0.59901	5.847000|5.847000	0.69451|0.69451	1.055000|1.055000	0.40461|0.40461	-0.254000|-0.254000	0.11334|0.11334	GAA|AGA	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	ENSG00000147471		0.433	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	80	0.00	0	G	NM_007198		37630348	37630348	+1	no_errors	ENST00000328195	ensembl	human	known	69_37n	missense	42	52.27	46	SNP	0.997	C
PRPF39	55015	genome.wustl.edu	37	14	45565402	45565402	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:45565402C>T	ENST00000355765.6	+	3	591	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	141					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CCTTGAAAAGCGGCACGACAA	0.378																																						dbGAP											0													53.0	49.0	50.0					14																	45565402		1884	4113	5997	-	-	-	SO:0001583	missense	0			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.421C>T	14.37:g.45565402C>T	ENSP00000348010:p.Arg141Trp		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	smart_HAT	p.R141W	ENST00000355765.6	37	c.421	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150868	0.57151	.	.	ENSG00000185246	ENST00000355765;ENST00000553605	T;T	0.36878	1.23;1.23	5.87	5.87	0.94306	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.57844	0.2081	M	0.68317	2.08	0.38192	D	0.939942	D	0.89917	1.0	D	0.70227	0.968	T	0.62821	-0.6773	9	0.87932	D	0	-3.5136	14.615	0.68541	0.1459:0.8541:0.0:0.0	.	141	Q86UA1	PRP39_HUMAN	W	141;131	ENSP00000348010:R141W;ENSP00000452428:R131W	ENSP00000348010:R141W	R	+	1	2	PRPF39	44635152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.240000	0.51368	2.779000	0.95612	0.591000	0.81541	CGG	PRPF39	-	smart_HAT	ENSG00000185246		0.378	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	82	0.00	0	C			45565402	45565402	+1	no_errors	ENST00000355765	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	1.000	T
PRPF4B	8899	genome.wustl.edu	37	6	4037711	4037713	+	In_Frame_Del	DEL	GAA	GAA	-	rs370956384		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:4037711_4037713delGAA	ENST00000337659.6	+	3	1419_1421	c.1319_1321delGAA	c.(1318-1323)cgaaga>cga	p.440_441RR>R	PRPF4B_ENST00000538861.1_In_Frame_Del_p.426_427RR>R	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	440	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCTCCAACCCGAAGAAGAAGTAG	0.473																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1319_1321delGAA	6.37:g.4037717_4037719delGAA	ENSP00000337194:p.Arg442del		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R442in_frame_del	ENST00000337659.6	37	c.1319_1321	CCDS4488.1	6																																																																																			PRPF4B	-	NULL	ENSG00000112739		0.473	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	73	0.00	0	GAA			4037711	4037713	+1	no_errors	ENST00000337659	ensembl	human	known	69_37n	in_frame_del	35	50.00	37	DEL	1.000:0.998:1.000	-
PRPF8	10594	genome.wustl.edu	37	17	1554841	1554841	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:1554841C>T	ENST00000572621.1	-	40	6782	c.6517G>A	c.(6517-6519)Gaa>Aaa	p.E2173K	PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.E2173K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2173	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCTAAGGGTTCCATCTCCTAT	0.527																																						dbGAP											0													116.0	112.0	113.0					17																	1554841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6517G>A	17.37:g.1554841C>T	ENSP00000460348:p.Glu2173Lys		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.E2173K	ENST00000572621.1	37	c.6517	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687115	0.68157	.	.	ENSG00000174231	ENST00000304992	T	0.55052	0.54	5.6	4.63	0.57726	.	0.046267	0.85682	D	0.000000	T	0.77219	0.4098	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82238	-0.0556	10	0.56958	D	0.05	.	14.2245	0.65850	0.0:0.9284:0.0:0.0716	.	2173	Q6P2Q9	PRP8_HUMAN	K	2173	ENSP00000304350:E2173K	ENSP00000304350:E2173K	E	-	1	0	PRPF8	1501591	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.625000	0.83145	1.361000	0.45981	0.655000	0.94253	GAA	PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	ENSG00000174231		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	95	0.00	0	C			1554841	1554841	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	missense	23	52.08	25	SNP	1.000	T
PRSS55	203074	genome.wustl.edu	37	8	10390543	10390543	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:10390543C>T	ENST00000328655.3	+	4	766	c.726C>T	c.(724-726)agC>agT	p.S242S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.S242S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGAATGAGAGCTATGATGCCT	0.483																																						dbGAP											0													116.0	99.0	105.0					8																	10390543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.726C>T	8.37:g.10390543C>T			E5RJX5	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S242	ENST00000328655.3	37	c.726	CCDS5976.1	8																																																																																			PRSS55	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000184647		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	99	0.00	0	C	NM_198464		10390543	10390543	+1	no_errors	ENST00000328655	ensembl	human	known	69_37n	silent	77	16.30	15	SNP	0.003	T
PRX	57716	genome.wustl.edu	37	19	40900900	40900900	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:40900900C>T	ENST00000324001.7	-	7	3629	c.3359G>A	c.(3358-3360)gGa>gAa	p.G1120E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1120	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCTGCATTCCACTGACGGC	0.672																																						dbGAP											0													53.0	51.0	52.0					19																	40900900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3359G>A	19.37:g.40900900C>T	ENSP00000326018:p.Gly1120Glu		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1120E	ENST00000324001.7	37	c.3359	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	5.321	0.244578	0.10077	.	.	ENSG00000105227	ENST00000324001	T	0.01139	5.28	4.84	1.3	0.21679	.	0.600559	0.14968	N	0.287971	T	0.01835	0.0058	L	0.41710	1.295	0.09310	N	1	D	0.63046	0.992	P	0.54026	0.74	T	0.50808	-0.8784	10	0.48119	T	0.1	-0.5466	3.2873	0.06936	0.0:0.4977:0.2177:0.2846	.	1120	Q9BXM0	PRAX_HUMAN	E	1120	ENSP00000326018:G1120E	ENSP00000326018:G1120E	G	-	2	0	PRX	45592740	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-0.406000	0.07187	0.614000	0.30107	0.491000	0.48974	GGA	PRX	-	NULL	ENSG00000105227		0.672	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	34	0.00	0	C	NM_020956		40900900	40900900	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	0.000	T
PSD2	84249	genome.wustl.edu	37	5	139193060	139193060	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:139193060C>A	ENST00000274710.3	+	3	743	c.538C>A	c.(538-540)Ctc>Atc	p.L180I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	180					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGCCCCCCTCACACCCCT	0.677																																						dbGAP											0													37.0	40.0	39.0					5																	139193060		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.538C>A	5.37:g.139193060C>A	ENSP00000274710:p.Leu180Ile		D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.L180I	ENST00000274710.3	37	c.538	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023079	0.75275	.	.	ENSG00000146005	ENST00000274710	T	0.32023	1.47	3.99	3.99	0.46301	.	0.093898	0.42420	D	0.000712	T	0.50446	0.1616	L	0.57536	1.79	0.46521	D	0.999081	D	0.69078	0.997	D	0.72625	0.978	T	0.54748	-0.8247	10	0.72032	D	0.01	.	14.7866	0.69808	0.0:1.0:0.0:0.0	.	180	Q9BQI7	PSD2_HUMAN	I	180	ENSP00000274710:L180I	ENSP00000274710:L180I	L	+	1	0	PSD2	139173244	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	5.014000	0.64029	2.214000	0.71695	0.462000	0.41574	CTC	PSD2	-	NULL	ENSG00000146005		0.677	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	39	0.00	0	C	NM_032289		139193060	139193060	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	A
PSG2	5670	genome.wustl.edu	37	19	43585326	43585326	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:43585326G>A	ENST00000406487.1	-	2	235	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	46	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTTCCCCTCGGAAACTTTTGG	0.478																																						dbGAP											0													158.0	156.0	157.0					19																	43585326		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.137C>T	19.37:g.43585326G>A	ENSP00000385706:p.Ser46Phe		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S46F	ENST00000406487.1	37	c.137	CCDS12616.1	19	.	.	.	.	.	.	.	.	.	.	N	6.967	0.548315	0.13312	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.67345	-0.26	0.569	0.569	0.17340	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74168	0.3681	M	0.86178	2.8	0.09310	N	1	B;P	0.35944	0.045;0.529	B;P	0.46585	0.076;0.521	T	0.67273	-0.5712	8	0.66056	D	0.02	.	.	.	.	.	46;46	B5MCM8;P11465	.;PSG2_HUMAN	F	46	ENSP00000385706:S46F	ENSP00000332984:S46F	S	-	2	0	PSG2	48277166	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	0.344000	0.19962	0.567000	0.29293	0.184000	0.17185	TCC	PSG2	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000242221		0.478	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	175	0.00	0	G	NM_031246		43585326	43585326	-1	no_errors	ENST00000329509	ensembl	human	known	69_37n	missense	60	58.90	86	SNP	0.004	A
PSMD1	5707	genome.wustl.edu	37	2	232035319	232035319	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:232035319G>C	ENST00000308696.6	+	24	2917	c.2755G>C	c.(2755-2757)Gaa>Caa	p.E919Q	PSMD1_ENST00000373635.4_Missense_Mutation_p.E888Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.E888Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	919					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGATACCAGTGAAGACATTGA	0.493																																						dbGAP											0													95.0	92.0	93.0					2																	232035319		2203	4300	6503	-	-	-	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2755G>C	2.37:g.232035319G>C	ENSP00000309474:p.Glu919Gln		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.E919Q	ENST00000308696.6	37	c.2755	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888177	0.72524	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	L	0.38175	1.15	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	T	0.61865	-0.6975	9	0.66056	D	0.02	-13.5277	19.6128	0.95616	0.0:0.0:1.0:0.0	.	919	Q99460	PSMD1_HUMAN	Q	919;888;888	.	ENSP00000309474:E919Q	E	+	1	0	PSMD1	231743563	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	9.468000	0.97676	2.635000	0.89317	0.655000	0.94253	GAA	PSMD1	-	pirsf_26S_Psome_Rpn2	ENSG00000173692		0.493	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	107	0.00	0	G			232035319	232035319	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	missense	81	29.57	34	SNP	1.000	C
PSMD12	5718	genome.wustl.edu	37	17	65341877	65341877	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:65341877C>G	ENST00000356126.3	-	8	999	c.892G>C	c.(892-894)Gaa>Caa	p.E298Q	PSMD12_ENST00000357146.4_Missense_Mutation_p.E278Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	298	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TTGGGAATTTCTTCTAACTTC	0.353																																						dbGAP											0													179.0	167.0	171.0					17																	65341877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.892G>C	17.37:g.65341877C>G	ENSP00000348442:p.Glu298Gln		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E298Q	ENST00000356126.3	37	c.892	CCDS11669.1	17	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113586	0.37339	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.45668	0.91;0.89	4.99	4.99	0.66335	.	0.045080	0.85682	D	0.000000	T	0.38558	0.1045	L	0.52266	1.64	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.26155	-1.0111	10	0.13108	T	0.6	-20.4752	18.2602	0.90033	0.0:1.0:0.0:0.0	.	278;298	A6NP15;O00232	.;PSD12_HUMAN	Q	298;278	ENSP00000348442:E298Q;ENSP00000349667:E278Q	ENSP00000348442:E298Q	E	-	1	0	PSMD12	62772339	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.458000	0.80787	2.305000	0.77605	0.305000	0.20034	GAA	PSMD12	-	NULL	ENSG00000197170		0.353	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1	194	0.00	0	C	NM_002816, NM_174871		65341877	65341877	-1	no_errors	ENST00000356126	ensembl	human	known	69_37n	missense	92	50.27	93	SNP	1.000	G
PSME4	23198	genome.wustl.edu	37	2	54155412	54155412	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:54155412C>A	ENST00000404125.1	-	11	1400	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	449					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGTGAGGTTCTGTTAATGTC	0.373																																						dbGAP											0													83.0	79.0	81.0					2																	54155412		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1345G>T	2.37:g.54155412C>A	ENSP00000384211:p.Glu449*		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Nonsense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.E449*	ENST00000404125.1	37	c.1345	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	38	7.237980	0.98157	.	.	ENSG00000068878	ENST00000404125	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	.	.	.	X	449	.	ENSP00000374643:E449X	E	-	1	0	PSME4	54008916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.698000	0.92095	0.591000	0.81541	GAA	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	98	0.00	0	C	XM_040158		54155412	54155412	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	nonsense	54	28.95	22	SNP	1.000	A
PTCD1	26024	genome.wustl.edu	37	7	99032720	99032720	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:99032720G>A	ENST00000292478.4	-	2	396	c.146C>T	c.(145-147)tCc>tTc	p.S49F	PTCD1_ENST00000555673.1_Missense_Mutation_p.S98F|PTCD1_ENST00000485746.1_5'Flank|ATP5J2-PTCD1_ENST00000437572.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S98F	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	49					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGAGAGGAGGAGCTGCTGAA	0.652																																						dbGAP											0													26.0	28.0	27.0					7																	99032720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.146C>T	7.37:g.99032720G>A	ENSP00000292478:p.Ser49Phe		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.S98F	ENST00000292478.4	37	c.293	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548176	0.27652	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000430982;ENST00000430029;ENST00000419981;ENST00000437572;ENST00000413834	T;T;D;D;D;T;T	0.84800	-0.33;-0.3;-1.88;-1.9;-1.88;-1.29;-0.3	4.95	4.07	0.47477	.	0.273169	0.30869	N	0.008705	D	0.83478	0.5263	M	0.76574	2.34	0.37708	D	0.924477	B;B	0.16802	0.019;0.011	B;B	0.18561	0.022;0.01	T	0.82843	-0.0257	10	0.56958	D	0.05	-21.5622	10.2461	0.43341	0.0923:0.0:0.9077:0.0	.	98;49	G3V325;O75127	.;PTCD1_HUMAN	F	49;98;49;49;49;49;98	ENSP00000292478:S49F;ENSP00000450995:S98F;ENSP00000390530:S49F;ENSP00000408059:S49F;ENSP00000401600:S49F;ENSP00000410697:S49F;ENSP00000400168:S98F	ENSP00000400168:S98F	S	-	2	0	ATP5J2-PTCD1;PTCD1	98870656	0.430000	0.25538	0.590000	0.28732	0.275000	0.26752	1.961000	0.40432	1.322000	0.45245	0.563000	0.77884	TCC	PTCD1	-	NULL	ENSG00000106246		0.652	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	40	0.00	0	G	NM_015545		99032720	99032720	-1	no_errors	ENST00000555673	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.808	A
PTCH1	5727	genome.wustl.edu	37	9	98209244	98209244	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:98209244G>A	ENST00000331920.6	-	23	4593	c.4294C>T	c.(4294-4296)Ctg>Ttg	p.L1432L	PTCH1_ENST00000418258.1_Silent_p.L1281L|PTCH1_ENST00000429896.2_Silent_p.L1281L|PTCH1_ENST00000430669.2_Silent_p.L1366L|PTCH1_ENST00000437951.1_Silent_p.L1366L|PTCH1_ENST00000421141.1_Silent_p.L1281L|PTCH1_ENST00000375274.2_Silent_p.L1431L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1432					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGTCCTGCAGCTCAATGACT	0.612																																						dbGAP											0													108.0	107.0	108.0					9																	98209244		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4294C>T	9.37:g.98209244G>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1432	ENST00000331920.6	37	c.4294	CCDS6714.1	9																																																																																			PTCH1	-	NULL	ENSG00000185920		0.612	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	60	0.00	0	G	NM_000264		98209244	98209244	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	silent	25	40.48	17	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89692886	89692886	+	Missense_Mutation	SNP	T	T	G	rs121909223		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:89692886T>G	ENST00000371953.3	+	5	1727	c.370T>G	c.(370-372)Tgt>Ggt	p.C124G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	124	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|C -> S (in CWS1; phosphatase-dead protein with neither lipid nor protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C124S(3)|p.C124fs*10(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.C124R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCAATTCACTGTAAAGCTGG	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	58	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(1)	prostate(16)|central_nervous_system(14)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM971271	PTEN	M	rs121909223						139.0	128.0	132.0					10																	89692886		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.370T>G	10.37:g.89692886T>G	ENSP00000361021:p.Cys124Gly		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.C124G	ENST00000371953.3	37	c.370	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424433	0.83667	.	.	ENSG00000171862	ENST00000371953	D	0.99895	-7.59	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95857	0.8880	9	.	.	.	-0.4307	15.1019	0.72284	0.0:0.0:0.0:1.0	.	124	P60484	PTEN_HUMAN	G	124	ENSP00000361021:C124G	.	C	+	1	0	PTEN	89682866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.661000	0.83786	1.953000	0.56701	0.533000	0.62120	TGT	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	104	0.00	0	T	NM_000314		89692886	89692886	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	61	54.14	72	SNP	1.000	G
PTGS2	5743	genome.wustl.edu	37	1	186643896	186643896	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:186643896T>C	ENST00000367468.5	-	10	1542		c.e10-2		PTGS2_ENST00000490885.2_Splice_Site	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)						anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CCTTTTCTCCTGTGAAGGCGA	0.438																																						dbGAP											0													62.0	64.0	64.0					1																	186643896		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1406-2A>G	1.37:g.186643896T>C			A8K802|Q16876	Splice_Site	SNP	-	e10-2	ENST00000367468.5	37	c.1406-2	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777546	0.49786	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5837	0.76465	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGS2	184910519	1.000000	0.71417	0.988000	0.46212	0.494000	0.33585	7.840000	0.86819	2.071000	0.62044	0.528000	0.53228	.	PTGS2	-	-	ENSG00000073756		0.438	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	58	0.00	0	T	NM_000963	Intron	186643896	186643896	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	splice_site	67	27.17	25	SNP	1.000	C
PTGS2	5743	genome.wustl.edu	37	1	186648511	186648511	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:186648511C>T	ENST00000367468.5	-	2	248	c.112G>A	c.(112-114)Gac>Aac	p.D38N	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	38	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTATACTGGTCAAATCCCACA	0.443																																						dbGAP											0													120.0	102.0	108.0					1																	186648511		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.112G>A	1.37:g.186648511C>T	ENSP00000356438:p.Asp38Asn		A8K802|Q16876	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal	p.D38N	ENST00000367468.5	37	c.112	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680310	0.88542	.	.	ENSG00000073756	ENST00000367468	T	0.67865	-0.29	5.27	5.27	0.74061	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.136550	0.64402	D	0.000004	T	0.55033	0.1895	N	0.16656	0.425	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.53472	-0.8434	10	0.72032	D	0.01	-21.6855	18.5108	0.90916	0.0:1.0:0.0:0.0	.	38	P35354	PGH2_HUMAN	N	38	ENSP00000356438:D38N	ENSP00000356438:D38N	D	-	1	0	PTGS2	184915134	0.998000	0.40836	0.999000	0.59377	0.872000	0.50106	4.762000	0.62250	2.444000	0.82710	0.655000	0.94253	GAC	PTGS2	-	pfscan_EG-like_dom	ENSG00000073756		0.443	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	116	0.00	0	C	NM_000963		186648511	186648511	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	missense	117	27.78	45	SNP	1.000	T
PTK7	5754	genome.wustl.edu	37	6	43109509	43109509	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:43109509C>T	ENST00000230419.4	+	11	1943	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N	PTK7_ENST00000349241.2_Silent_p.N444N|PTK7_ENST00000481273.1_Silent_p.N582N|PTK7_ENST00000352931.2_Silent_p.N574N|PTK7_ENST00000345201.2_Silent_p.N534N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	574	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TTGCCTCCAACGGGCCGCAGG	0.657																																						dbGAP											0													121.0	118.0	119.0					6																	43109509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1722C>T	6.37:g.43109509C>T			A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N574	ENST00000230419.4	37	c.1722	CCDS4884.1	6																																																																																			PTK7	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000112655		0.657	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	65	0.00	0	C			43109509	43109509	+1	no_errors	ENST00000230419	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.760	T
PTPN3	5774	genome.wustl.edu	37	9	112168784	112168784	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:112168784C>G	ENST00000374541.2	-	18	1854	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	PTPN3_ENST00000262539.3_Missense_Mutation_p.E430Q|PTPN3_ENST00000394827.3_Missense_Mutation_p.E52Q|PTPN3_ENST00000446349.1_Missense_Mutation_p.E408Q|PTPN3_ENST00000412145.1_Missense_Mutation_p.E453Q	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	584					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAGTGGGACTCCCGGCTGGCT	0.572																																						dbGAP											0													142.0	132.0	135.0					9																	112168784		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1750G>C	9.37:g.112168784C>G	ENSP00000363667:p.Glu584Gln		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.E584Q	ENST00000374541.2	37	c.1750	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.285091	0.95517	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.74	5.74	0.90152	PDZ/DHR/GLGF (3);	0.046564	0.85682	D	0.000000	T	0.49338	0.1551	L	0.43757	1.38	0.80722	D	1	D;P;P	0.76494	0.999;0.883;0.753	D;P;P	0.70227	0.968;0.644;0.491	T	0.21690	-1.0238	10	0.35671	T	0.21	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	430;539;584	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	Q	584;453;408;584;52;430	ENSP00000416654:E453Q;ENSP00000395384:E408Q;ENSP00000363667:E584Q;ENSP00000378304:E52Q;ENSP00000262539:E430Q	ENSP00000262539:E430Q	E	-	1	0	PTPN3	111208605	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.712000	0.92718	0.561000	0.74099	GAG	PTPN3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4	ENSG00000070159		0.572	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	110	0.00	0	C			112168784	112168784	-1	no_errors	ENST00000374541	ensembl	human	known	69_37n	missense	83	28.45	33	SNP	1.000	G
PTPRM	5797	genome.wustl.edu	37	18	7888192	7888192	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:7888192C>T	ENST00000332175.8	+	3	1322	c.285C>T	c.(283-285)caC>caT	p.H95H	PTPRM_ENST00000580170.1_Silent_p.H95H|PTPRM_ENST00000400053.4_Silent_p.H33H|PTPRM_ENST00000400060.4_Silent_p.H95H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	95	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATGACACCCACTGCATCGATT	0.483																																						dbGAP											0													137.0	138.0	138.0					18																	7888192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.285C>T	18.37:g.7888192C>T			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.H95	ENST00000332175.8	37	c.285	CCDS11840.1	18																																																																																			PTPRM	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000173482		0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	140	0.00	0	C			7888192	7888192	+1	no_errors	ENST00000400060	ensembl	human	known	69_37n	silent	49	53.33	56	SNP	1.000	T
PTPRT	11122	genome.wustl.edu	37	20	41419914	41419914	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:41419914C>A	ENST00000373187.1	-	3	406	c.407G>T	c.(406-408)tGg>tTg	p.W136L	PTPRT_ENST00000356100.2_Missense_Mutation_p.W136L|PTPRT_ENST00000373190.1_Missense_Mutation_p.W136L|PTPRT_ENST00000373184.1_Missense_Mutation_p.W136L|PTPRT_ENST00000373193.3_Missense_Mutation_p.W136L|PTPRT_ENST00000373201.1_Missense_Mutation_p.W136L|PTPRT_ENST00000373198.4_Missense_Mutation_p.W136L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	136	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGACACATTCCACACAGGGTT	0.552																																						dbGAP											0													82.0	85.0	84.0					20																	41419914		1974	4176	6150	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.407G>T	20.37:g.41419914C>A	ENSP00000362283:p.Trp136Leu		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.W136L	ENST00000373187.1	37	c.407	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925697	0.92319	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11;4.11;4.11	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	M	0.90483	3.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.972;0.984	T	0.01436	-1.1355	10	0.87932	D	0	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	136;136	O14522-1;O14522	.;PTPRT_HUMAN	L	136	ENSP00000362286:W136L;ENSP00000362283:W136L;ENSP00000362289:W136L;ENSP00000348408:W136L;ENSP00000362294:W136L;ENSP00000362280:W136L;ENSP00000362297:W136L	ENSP00000348408:W136L	W	-	2	0	PTPRT	40853328	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.818000	0.86416	2.676000	0.91093	0.561000	0.74099	TGG	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000196090		0.552	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	43	0.00	0	C			41419914	41419914	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	1.000	A
PYGB	5834	genome.wustl.edu	37	20	25239910	25239910	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:25239910G>A	ENST00000216962.4	+	2	391	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	94					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TACATGGGTCGCACGCTGCAG	0.493																																						dbGAP											0													111.0	112.0	111.0					20																	25239910		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.281G>A	20.37:g.25239910G>A	ENSP00000216962:p.Arg94His		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.R94H	ENST00000216962.4	37	c.281	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.101962	0.94245	.	.	ENSG00000100994	ENST00000216962	D	0.93076	-3.16	4.38	4.38	0.52667	.	0.110634	0.64402	D	0.000012	D	0.97845	0.9292	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99113	1.0847	10	0.87932	D	0	-19.5793	16.214	0.82191	0.0:0.0:1.0:0.0	.	94	P11216	PYGB_HUMAN	H	94	ENSP00000216962:R94H	ENSP00000216962:R94H	R	+	2	0	PYGB	25187910	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	9.044000	0.93805	2.431000	0.82371	0.655000	0.94253	CGC	PYGB	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.493	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	100	0.00	0	G	NM_002862		25239910	25239910	+1	no_errors	ENST00000216962	ensembl	human	known	69_37n	missense	59	37.23	35	SNP	1.000	A
PTPRT	11122	genome.wustl.edu	37	20	41420063	41420063	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:41420063C>T	ENST00000373187.1	-	3	257	c.258G>A	c.(256-258)caG>caA	p.Q86Q	PTPRT_ENST00000356100.2_Silent_p.Q86Q|PTPRT_ENST00000373190.1_Silent_p.Q86Q|PTPRT_ENST00000373184.1_Silent_p.Q86Q|PTPRT_ENST00000373193.3_Silent_p.Q86Q|PTPRT_ENST00000373201.1_Silent_p.Q86Q|PTPRT_ENST00000373198.4_Silent_p.Q86Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	86	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGCCTTCTGGCCAGAGG	0.532																																						dbGAP											0													34.0	38.0	36.0					20																	41420063		1908	4140	6048	-	-	-	SO:0001819	synonymous_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.258G>A	20.37:g.41420063C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Q86	ENST00000373187.1	37	c.258	CCDS42874.1	20																																																																																			PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000196090		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	61	0.00	0	C			41420063	41420063	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	1.000	T
PYGM	5837	genome.wustl.edu	37	11	64525980	64525980	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:64525980A>G	ENST00000164139.3	-	3	751	c.353T>C	c.(352-354)cTg>cCg	p.L118P	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	118					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCCATGTCCAGGCCCAGCTG	0.647																																						dbGAP											0													64.0	70.0	68.0					11																	64525980		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.353T>C	11.37:g.64525980A>G	ENSP00000164139:p.Leu118Pro		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.L118P	ENST00000164139.3	37	c.353	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544494	0.86022	.	.	ENSG00000068976	ENST00000164139	D	0.94184	-3.37	5.47	5.47	0.80525	.	0.000000	0.42172	D	0.000757	D	0.97235	0.9096	M	0.92367	3.3	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	D	0.98057	1.0391	10	0.87932	D	0	-16.9871	13.4948	0.61419	1.0:0.0:0.0:0.0	.	118	P11217	PYGM_HUMAN	P	118	ENSP00000164139:L118P	ENSP00000164139:L118P	L	-	2	0	PYGM	64282556	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.450000	0.80656	2.089000	0.63090	0.379000	0.24179	CTG	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000068976		0.647	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	47	0.00	0	A	NM_005609		64525980	64525980	-1	no_errors	ENST00000164139	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	G
RAD50	10111	genome.wustl.edu	37	5	131924411	131924411	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:131924411G>C	ENST00000265335.6	+	8	1471	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000378823.3_Missense_Mutation_p.E223Q			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	362					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGCCATCAAGAACATATCCG	0.368								Homologous recombination																														dbGAP											0													87.0	85.0	86.0					5																	131924411		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1084G>C	5.37:g.131924411G>C	ENSP00000265335:p.Glu362Gln		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.E362Q	ENST00000265335.6	37	c.1084	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928903	0.34002	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07908	3.52;3.15;3.15	5.97	5.07	0.68467	.	0.204155	0.51477	D	0.000092	T	0.07007	0.0178	N	0.17082	0.46	0.39663	D	0.970648	B	0.15141	0.012	B	0.12156	0.007	T	0.35450	-0.9788	10	0.36615	T	0.2	-24.0763	16.8013	0.85615	0.0:0.2131:0.7869:0.0	.	362	Q92878	RAD50_HUMAN	Q	223;362;362	ENSP00000368100:E223Q;ENSP00000265335:E362Q;ENSP00000400049:E362Q	ENSP00000265335:E362Q	E	+	1	0	RAD50	131952310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.091000	0.50199	2.836000	0.97738	0.655000	0.94253	GAA	RAD50	-	tigrfam_Rad50	ENSG00000113522		0.368	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	51	0.00	0	G	NM_005732		131924411	131924411	+1	no_errors	ENST00000265335	ensembl	human	known	69_37n	missense	77	26.67	28	SNP	1.000	C
RALGAPA2	57186	genome.wustl.edu	37	20	20610050	20610050	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:20610050G>C	ENST00000202677.7	-	10	1197	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	397					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ACCTCGTGTTGACAAGAGAAT	0.458																																						dbGAP											0													104.0	107.0	106.0					20																	20610050		2059	4198	6257	-	-	-	SO:0001587	stop_gained	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1190C>G	20.37:g.20610050G>C	ENSP00000202677:p.Ser397*		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S397*	ENST00000202677.7	37	c.1190	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.367415|5.367415	0.95900|0.95900	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.114726	.|0.64402	.|D	.|0.000008	T|.	0.77498|.	0.4139|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79288|.	-0.1865|.	3|.	.|0.56958	.|D	.|0.05	.|.	18.8225|18.8225	0.92103|0.92103	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	214|397	.|.	.|ENSP00000202677:S397X	Q|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20558050|20558050	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.494000|0.494000	0.33585|0.33585	9.598000|9.598000	0.98277|0.98277	2.434000|2.434000	0.82447|0.82447	0.650000|0.650000	0.86243|0.86243	CAA|TCA	RALGAPA2	-	NULL	ENSG00000188559		0.458	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	117	0.00	0	G	NM_020343		20610050	20610050	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	nonsense	82	33.87	42	SNP	1.000	C
RAP1B	5908	genome.wustl.edu	37	12	69042554	69042554	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:69042554C>G	ENST00000250559.9	+	2	281	c.50C>G	c.(49-51)tCt>tGt	p.S17C	RAP1B_ENST00000543697.1_Missense_Mutation_p.S17C|RAP1B_ENST00000537460.1_Missense_Mutation_p.S17C|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.S17C|RAP1B_ENST00000341355.5_Missense_Mutation_p.S17C|RAP1B_ENST00000540209.1_Missense_Mutation_p.S17C|RAP1B_ENST00000539091.1_Missense_Mutation_p.S17C|RAP1B_ENST00000450214.2_Missense_Mutation_p.S17C|RAP1B_ENST00000541216.1_Missense_Mutation_p.S17C|RAP1B_ENST00000393436.5_Missense_Mutation_p.S17C	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	17					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GTTGGAAAGTCTGCTTTGGTA	0.363																																						dbGAP											0													107.0	87.0	94.0					12																	69042554		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.50C>G	12.37:g.69042554C>G	ENSP00000250559:p.Ser17Cys		B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S17C	ENST00000250559.9	37	c.50	CCDS8984.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.061430	0.93846	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000422358;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000539091;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81247	-1.01;-1.01;-1.01;-1.47;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	H	0.99074	4.42	0.80722	D	1	D;P;D;D	0.89917	1.0;0.88;1.0;1.0	D;P;D;D	0.97110	1.0;0.7;1.0;1.0	D	0.96491	0.9364	9	.	.	.	.	19.9349	0.97133	0.0:1.0:0.0:0.0	.	17;17;17;17	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	C	17	ENSP00000250559:S17C;ENSP00000377085:S17C;ENSP00000401095:S17C;ENSP00000390972:S17C;ENSP00000445138:S17C;ENSP00000444786:S17C;ENSP00000441275:S17C;ENSP00000439966:S17C;ENSP00000399986:S17C;ENSP00000437415:S17C;ENSP00000438088:S17C;ENSP00000441952:S17C;ENSP00000444060:S17C;ENSP00000446318:S17C;ENSP00000440466:S17C;ENSP00000444830:S17C;ENSP00000440014:S17C;ENSP00000444924:S17C;ENSP00000440635:S17C;ENSP00000440708:S17C;ENSP00000438311:S17C;ENSP00000443851:S17C	.	S	+	2	0	RAP1B	67328821	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCT	RAP1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000127314		0.363	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1B	HGNC	protein_coding	OTTHUMT00000257821.3	126	0.00	0	C	NM_001010942		69042554	69042554	+1	no_errors	ENST00000250559	ensembl	human	known	69_37n	missense	144	28.57	58	SNP	1.000	G
RAPGEF6	51735	genome.wustl.edu	37	5	130764664	130764664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:130764664G>A	ENST00000509018.1	-	27	4916	c.4711C>T	c.(4711-4713)Cag>Tag	p.Q1571*	CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.Q1621*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1579*|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1571					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTATGCCTCTGAGGCTGAGTT	0.468																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													131.0	121.0	124.0					5																	130764664		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4711C>T	5.37:g.130764664G>A	ENSP00000421684:p.Gln1571*		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q1571*	ENST00000509018.1	37	c.4711	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	41	9.052682	0.99050	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	.	.	.	4.92	4.92	0.64577	.	0.254757	0.35646	N	0.003077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.4881	0.84190	0.0:0.0:1.0:0.0	.	.	.	.	X	1571;1579;1621	.	ENSP00000426948:Q1621X	Q	-	1	0	RAPGEF6;FNIP1	130792563	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	5.211000	0.65219	2.580000	0.87095	0.655000	0.94253	CAG	RAPGEF6	-	NULL	ENSG00000158987		0.468	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	98	0.00	0	G	NM_016340		130764664	130764664	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	nonsense	51	44.57	41	SNP	1.000	A
RBM20	282996	genome.wustl.edu	37	10	112581589	112581589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:112581589delC	ENST00000369519.3	+	11	3270	c.3212delC	c.(3211-3213)accfs	p.T1071fs		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1071					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						ACCAGGGGGACCCCCGAAGAT	0.592																																						dbGAP											0													33.0	39.0	37.0					10																	112581589		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3212delC	10.37:g.112581589delC	ENSP00000358532:p.Thr1071fs		A6NIP5|B5A868|Q5JVI1	Frame_Shift_Del	DEL	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E1073fs	ENST00000369519.3	37	c.3212	CCDS44477.1	10																																																																																			RBM20	-	NULL	ENSG00000203867		0.592	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	48	0.00	0	C	NM_001134363		112581589	112581589	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	frame_shift_del	9	44.44	8	DEL	0.229	-
RBM28	55131	genome.wustl.edu	37	7	127975956	127975956	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:127975956C>T	ENST00000223073.2	-	7	868	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	RBM28_ENST00000415472.2_Missense_Mutation_p.E111K	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	252	Asp/Glu-rich (acidic).				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCCTCTtcatcttcatca	0.413																																						dbGAP											0													328.0	258.0	281.0					7																	127975956		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.754G>A	7.37:g.127975956C>T	ENSP00000223073:p.Glu252Lys		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E252K	ENST00000223073.2	37	c.754	CCDS5801.1	7	.	.	.	.	.	.	.	.	.	.	C	7.201	0.593510	0.13875	.	.	ENSG00000106344	ENST00000223073;ENST00000415472;ENST00000478061	T;T;T	0.21361	2.9;2.01;2.06	4.55	3.67	0.42095	.	2.113030	0.01759	N	0.030461	T	0.11410	0.0278	N	0.04508	-0.205	0.09310	N	1	B;B	0.23937	0.094;0.089	B;B	0.19666	0.026;0.018	T	0.26360	-1.0105	10	0.12103	T	0.63	-0.7337	8.5218	0.33279	0.0:0.8943:0.0:0.1057	.	111;252	E9PDD9;Q9NW13	.;RBM28_HUMAN	K	252;111;221	ENSP00000223073:E252K;ENSP00000390517:E111K;ENSP00000418071:E221K	ENSP00000223073:E252K	E	-	1	0	RBM28	127763192	0.010000	0.17322	0.007000	0.13788	0.027000	0.11550	1.762000	0.38451	1.271000	0.44313	0.655000	0.94253	GAA	RBM28	-	NULL	ENSG00000106344		0.413	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	HGNC	protein_coding	OTTHUMT00000349442.2	356	0.00	0	C	NM_018077		127975956	127975956	-1	no_errors	ENST00000223073	ensembl	human	known	69_37n	missense	308	32.16	146	SNP	0.010	T
RBM44	375316	genome.wustl.edu	37	2	238725800	238725800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:238725800delT	ENST00000409864.1	+	3	495	c.241delT	c.(241-243)tttfs	p.F82fs	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Frame_Shift_Del_p.F82fs			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	81						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATTAGAGCCATTTTTTTCAGT	0.333																																						dbGAP											0													68.0	69.0	69.0					2																	238725800		1832	4065	5897	-	-	-	SO:0001589	frameshift_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.241delT	2.37:g.238725800delT	ENSP00000386727:p.Phe82fs		A0AUW3	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S83fs	ENST00000409864.1	37	c.241	CCDS46554.1	2																																																																																			RBM44	-	NULL	ENSG00000177483		0.333	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	42	0.00	0	T	NM_001080504		238725800	238725800	+1	no_errors	ENST00000316997	ensembl	human	known	69_37n	frame_shift_del	38	22.45	11	DEL	0.003	-
REN	5972	genome.wustl.edu	37	1	204125433	204125433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:204125433G>T	ENST00000272190.8	-	8	861	c.833C>A	c.(832-834)tCa>tAa	p.S278*	REN_ENST00000367195.2_Nonsense_Mutation_p.S275*	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	278					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAAGGTGGATGACCCCACAGA	0.577																																						dbGAP											0													63.0	65.0	64.0					1																	204125433		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.833C>A	1.37:g.204125433G>T	ENSP00000272190:p.Ser278*		Q6FI38|Q6T5C2	Nonsense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.S278*	ENST00000272190.8	37	c.833	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461054	0.84317	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	.	.	.	4.57	4.57	0.56435	.	0.478425	0.23118	N	0.051722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9037	0.63821	0.0:0.1537:0.8463:0.0	.	.	.	.	X	275;197;278	.	ENSP00000272190:S278X	S	-	2	0	REN	202392056	0.015000	0.18098	0.828000	0.32881	0.865000	0.49528	1.005000	0.29834	2.251000	0.74343	0.563000	0.77884	TCA	REN	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000143839		0.577	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	39	0.00	0	G	NM_000537		204125433	204125433	-1	no_errors	ENST00000272190	ensembl	human	known	69_37n	nonsense	27	28.95	11	SNP	0.084	T
RET	5979	genome.wustl.edu	37	10	43615122	43615122	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:43615122C>A	ENST00000355710.3	+	14	2768	c.2536C>A	c.(2536-2538)Ctc>Atc	p.L846I	RET_ENST00000340058.5_Missense_Mutation_p.L846I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGAGCGGGCCCTCACCATGGG	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													51.0	46.0	48.0					10																	43615122		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2536C>A	10.37:g.43615122C>A	ENSP00000347942:p.Leu846Ile		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.L846I	ENST00000355710.3	37	c.2536	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636069	0.67130	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.91464	-2.85;-2.85	5.36	4.46	0.54185	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	L	0.38175	1.15	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.91635	0.998;0.999;0.997	D	0.89807	0.3979	10	0.35671	T	0.21	.	10.5527	0.45099	0.0:0.7953:0.0:0.2046	.	592;846;846	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	846	ENSP00000347942:L846I;ENSP00000344798:L846I	ENSP00000344798:L846I	L	+	1	0	RET	42935128	0.985000	0.35326	0.994000	0.49952	0.925000	0.55904	2.610000	0.46325	1.272000	0.44329	0.313000	0.20887	CTC	RET	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000165731		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	22	0.00	0	C	NM_020975		43615122	43615122	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	0.990	A
RIT2	6014	genome.wustl.edu	37	18	40503615	40503615	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:40503615G>A	ENST00000326695.5	-	4	519	c.348C>T	c.(346-348)ctC>ctT	p.L116L	RIT2_ENST00000282028.4_Silent_p.L116L|RIT2_ENST00000589109.1_Silent_p.L116L|RIT2_ENST00000590910.1_Missense_Mutation_p.S137L	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	116					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGAAAAATGAGCTCTTTAA	0.507																																						dbGAP											0													217.0	218.0	218.0					18																	40503615		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.348C>T	18.37:g.40503615G>A			B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	pfam_Small_GTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S137L	ENST00000326695.5	37	c.410	CCDS11921.1	18																																																																																			RIT2	-	smart_Small_GTPase_Ras	ENSG00000152214		0.507	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT2	HGNC	protein_coding	OTTHUMT00000255852.1	49	0.00	0	G	NM_002930		40503615	40503615	-1	no_errors	ENST00000590910	ensembl	human	novel	69_37n	missense	32	44.83	26	SNP	1.000	A
RLN2	6019	genome.wustl.edu	37	9	5300362	5300362	+	Silent	SNP	C	C	T	rs555680741		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:5300362C>T	ENST00000381627.3	-	2	682	c.294G>A	c.(292-294)ctG>ctA	p.L98L	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	98					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GGGTTAACTTCAGCTCCTGTG	0.348																																						dbGAP											0													113.0	115.0	114.0					9																	5300362		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.294G>A	9.37:g.5300362C>T			A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.L98	ENST00000381627.3	37	c.294	CCDS6460.1	9																																																																																			RLN2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin	ENSG00000107014		0.348	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	HGNC	protein_coding	OTTHUMT00000051619.1	191	0.00	0	C	NM_134441		5300362	5300362	-1	no_errors	ENST00000381627	ensembl	human	known	69_37n	silent	151	29.44	63	SNP	0.003	T
RNF103	7844	genome.wustl.edu	37	2	86831694	86831694	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:86831694T>C	ENST00000237455.4	-	4	2298	c.1330A>G	c.(1330-1332)Aat>Gat	p.N444D	AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	444					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACTTCATCATTGTTGTTGTTG	0.418																																						dbGAP											0													127.0	126.0	127.0					2																	86831694		2203	4300	6503	-	-	-	SO:0001583	missense	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1330A>G	2.37:g.86831694T>C	ENSP00000237455:p.Asn444Asp		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.N444D	ENST00000237455.4	37	c.1330	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.417934	0.01136	.	.	ENSG00000239305	ENST00000237455	T	0.41758	0.99	4.15	1.73	0.24493	.	0.607593	0.19034	N	0.124470	T	0.20129	0.0484	N	0.12182	0.205	0.20074	N	0.999935	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	10	0.18710	T	0.47	-2.8263	6.988	0.24739	0.0:0.3531:0.0:0.6469	.	444	O00237	RN103_HUMAN	D	444	ENSP00000237455:N444D	ENSP00000237455:N444D	N	-	1	0	RNF103	86685205	0.864000	0.29904	0.510000	0.27712	0.728000	0.41692	1.167000	0.31847	0.484000	0.27630	0.377000	0.23210	AAT	RNF103	-	NULL	ENSG00000239305		0.418	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	103	0.00	0	T	NM_005667		86831694	86831694	-1	no_errors	ENST00000237455	ensembl	human	known	69_37n	missense	108	28.48	43	SNP	0.279	C
RPL13A	23521	genome.wustl.edu	37	19	49994349	49994349	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:49994349C>T	ENST00000391857.4	+	6	471	c.395C>T	c.(394-396)aCa>aTa	p.T132I	SNORD32A_ENST00000364805.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	132					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTGAAGCCTACAAGAAAGGTG	0.562																																						dbGAP											0													64.0	58.0	60.0					19																	49994349		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.395C>T	19.37:g.49994349C>T	ENSP00000375730:p.Thr132Ile		A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.T132I	ENST00000391857.4	37	c.395	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485953	0.63962	.	.	ENSG00000142541	ENST00000391857	.	.	.	5.61	4.56	0.56223	Ribosomal protein L13 domain (2);	0.158661	0.39210	U	0.001427	T	0.67832	0.2935	M	0.79805	2.47	0.46437	D	0.999046	B;B	0.14438	0.01;0.003	B;B	0.14578	0.011;0.007	T	0.68606	-0.5364	9	0.59425	D	0.04	.	13.0885	0.59154	0.0:0.9175:0.0:0.0825	.	132;132	Q5QTS3;P40429	.;RL13A_HUMAN	I	132	.	ENSP00000375730:T132I	T	+	2	0	RPL13A	54686161	1.000000	0.71417	0.123000	0.21794	0.441000	0.31987	5.391000	0.66266	2.813000	0.96785	0.655000	0.94253	ACA	RPL13A	-	superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	ENSG00000142541		0.562	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	50	0.00	0	C			49994349	49994349	+1	no_errors	ENST00000391857	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	0.948	T
RPTOR	57521	genome.wustl.edu	37	17	78931483	78931483	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:78931483G>A	ENST00000306801.3	+	29	3792	c.3430G>A	c.(3430-3432)Gtg>Atg	p.V1144M	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.V986M	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1144					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCAGGAGACGTGCGGATCGT	0.632																																						dbGAP											0													158.0	132.0	141.0					17																	78931483		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3430G>A	17.37:g.78931483G>A	ENSP00000307272:p.Val1144Met		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.V1144M	ENST00000306801.3	37	c.3430	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652269	0.88056	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.28666	1.6;1.6	5.19	5.19	0.71726	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	0.55625	0.1932	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.959	T	0.51679	-0.8675	10	0.32370	T	0.25	.	18.7086	0.91648	0.0:0.0:1.0:0.0	.	986;1144	F5H7J5;Q8N122	.;RPTOR_HUMAN	M	1144;986	ENSP00000307272:V1144M;ENSP00000442479:V986M	ENSP00000307272:V1144M	V	+	1	0	RPTOR	76546078	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	9.300000	0.96151	2.419000	0.82065	0.655000	0.94253	GTG	RPTOR	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000141564		0.632	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	73	0.00	0	G	NM_020761		78931483	78931483	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	A
RUFY1	80230	genome.wustl.edu	37	5	179004109	179004109	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:179004109G>T	ENST00000319449.4	+	6	874	c.862G>T	c.(862-864)Gat>Tat	p.D288Y	RUFY1_ENST00000393438.2_Missense_Mutation_p.D180Y|RUFY1_ENST00000437570.2_Missense_Mutation_p.D180Y|RUFY1_ENST00000377001.2_Missense_Mutation_p.D288Y	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	288					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACCTTAAGGATGTGCAGGA	0.308										HNSCC(44;0.11)																												dbGAP											0													208.0	194.0	199.0					5																	179004109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.862G>T	5.37:g.179004109G>T	ENSP00000325594:p.Asp288Tyr		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.D288Y	ENST00000319449.4	37	c.862	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.7|20.7	4.037844|4.037844	0.75617|0.75617	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000508609	T;T;T;T|.	0.56611|.	0.45;1.66;0.51;0.51|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.106120|.	0.64402|.	D|.	0.000007|.	T|T	0.76456|0.76456	0.3990|0.3990	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.71674|.	0.998|.	D|.	0.64595|.	0.927|.	T|T	0.75065|0.75065	-0.3449|-0.3449	10|5	0.36615|.	T|.	0.2|.	-23.5834|-23.5834	19.2413|19.2413	0.93886|0.93886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	288|.	Q96T51|.	RUFY1_HUMAN|.	Y|S	288;288;180;180|98	ENSP00000325594:D288Y;ENSP00000366200:D288Y;ENSP00000390025:D180Y;ENSP00000377087:D180Y|.	ENSP00000325594:D288Y|.	D|R	+|+	1|3	0|2	RUFY1|RUFY1	178936715|178936715	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.964000|0.964000	0.63967|0.63967	3.969000|3.969000	0.56816|0.56816	2.636000|2.636000	0.89361|0.89361	0.645000|0.645000	0.84053|0.84053	GAT|AGG	RUFY1	-	NULL	ENSG00000176783		0.308	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	267	0.00	0	G	NM_001040451		179004109	179004109	+1	no_errors	ENST00000319449	ensembl	human	known	69_37n	missense	189	36.36	108	SNP	1.000	T
RUNDC1	146923	genome.wustl.edu	37	17	41139393	41139393	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:41139393G>A	ENST00000361677.1	+	2	631	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	207										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		gggcagttatgactcgctgcc	0.542																																						dbGAP											0													103.0	84.0	91.0					17																	41139393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.619G>A	17.37:g.41139393G>A	ENSP00000354622:p.Asp207Asn		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.D207N	ENST00000361677.1	37	c.619	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206029	0.58234	.	.	ENSG00000198863	ENST00000361677	T	0.74421	-0.84	5.11	5.11	0.69529	.	0.119687	0.53938	D	0.000043	T	0.72471	0.3464	L	0.57536	1.79	0.80722	D	1	P	0.37500	0.597	B	0.37650	0.255	T	0.72364	-0.4316	10	0.35671	T	0.21	-7.8091	17.2583	0.87063	0.0:0.0:1.0:0.0	.	207	Q96C34	RUND1_HUMAN	N	207	ENSP00000354622:D207N	ENSP00000354622:D207N	D	+	1	0	RUNDC1	38392919	1.000000	0.71417	0.949000	0.38748	0.839000	0.47603	7.984000	0.88150	2.649000	0.89929	0.655000	0.94253	GAC	RUNDC1	-	NULL	ENSG00000198863		0.542	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	66	0.00	0	G	NM_173079		41139393	41139393	+1	no_errors	ENST00000361677	ensembl	human	known	69_37n	missense	20	59.18	29	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237532877	237532877	+	Missense_Mutation	SNP	C	C	T	rs555183066		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:237532877C>T	ENST00000366574.2	+	6	670	c.353C>T	c.(352-354)gCc>gTc	p.A118V	RYR2_ENST00000542537.1_Missense_Mutation_p.A102V|RYR2_ENST00000360064.6_Missense_Mutation_p.A116V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	118	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACGGACATGCCATATTGCTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													157.0	130.0	138.0					1																	237532877		1960	4156	6116	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.353C>T	1.37:g.237532877C>T	ENSP00000355533:p.Ala118Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A116V	ENST00000366574.2	37	c.347	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.440162	0.96168	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98207	-4.79;-4.79;-4.79	5.55	5.55	0.83447	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	D	0.000006	D	0.97275	0.9109	M	0.65498	2.005	0.80722	D	1	B	0.30326	0.276	B	0.29267	0.1	D	0.96419	0.9310	10	0.87932	D	0	.	18.6233	0.91328	0.0:1.0:0.0:0.0	.	118	Q92736	RYR2_HUMAN	V	118;116;102	ENSP00000355533:A118V;ENSP00000353174:A116V;ENSP00000443798:A102V	ENSP00000353174:A116V	A	+	2	0	RYR2	235599500	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.453000	0.80700	2.755000	0.94549	0.655000	0.94253	GCC	RYR2	-	pfam_Ins145_P3_rcpt,superfamily_MIR,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif	ENSG00000198626		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	207	0.00	0	C	NM_001035		237532877	237532877	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	229	23.84	72	SNP	1.000	T
S1PR3	1903	genome.wustl.edu	37	9	91617141	91617141	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:91617141C>T	ENST00000375846.3	+	1	5721	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	S1PR3_ENST00000358157.2_Silent_p.S342S			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	342					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CAAGCAGCAGCAACAATAGCA	0.592																																						dbGAP											0													57.0	65.0	62.0					9																	91617141		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.1026C>T	9.37:g.91617141C>T			Q5SQD8|Q7Z5I2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt	p.S342	ENST00000375846.3	37	c.1026	CCDS6680.1	9																																																																																			S1PR3	-	prints_EDG1_rcpt	ENSG00000213694		0.592	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR3	HGNC	protein_coding	OTTHUMT00000052979.2	62	0.00	0	C	NM_005226		91617141	91617141	+1	no_errors	ENST00000358157	ensembl	human	known	69_37n	silent	28	33.33	14	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23909883	23909883	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:23909883G>A	ENST00000382292.3	-	9	8405	c.8132C>T	c.(8131-8133)tCg>tTg	p.S2711L	SACS_ENST00000382298.3_Missense_Mutation_p.S2711L|SACS_ENST00000402364.1_Missense_Mutation_p.S1961L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2711					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGAAATTTCCGAAACTTTTGC	0.398																																						dbGAP											0													67.0	68.0	67.0					13																	23909883		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8132C>T	13.37:g.23909883G>A	ENSP00000371729:p.Ser2711Leu		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S2711L	ENST00000382292.3	37	c.8132	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568500	0.86439	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.95690	-3.78;-3.78;-3.78	5.56	5.56	0.83823	ATPase-like, ATP-binding domain (2);	0.000000	0.64402	D	0.000001	D	0.97676	0.9238	M	0.77486	2.375	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	D	0.97350	0.9963	10	0.45353	T	0.12	.	19.5206	0.95183	0.0:0.0:1.0:0.0	.	2711	Q9NZJ4	SACS_HUMAN	L	2711;1961;2711	ENSP00000371729:S2711L;ENSP00000385844:S1961L;ENSP00000371735:S2711L	ENSP00000371729:S2711L	S	-	2	0	SACS	22807883	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.476000	0.97823	2.619000	0.88677	0.462000	0.41574	TCG	SACS	-	superfamily_ATPase-like_ATP-bd	ENSG00000151835		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	65	0.00	0	G	NM_014363		23909883	23909883	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	1.000	A
SAMD9	54809	genome.wustl.edu	37	7	92733848	92733848	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:92733848G>A	ENST00000379958.2	-	3	1832	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	521						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAGTTTCCTGACATCAGAAG	0.408																																						dbGAP											0													91.0	95.0	93.0					7																	92733848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1563C>T	7.37:g.92733848G>A			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V521	ENST00000379958.2	37	c.1563	CCDS34680.1	7																																																																																			SAMD9	-	NULL	ENSG00000205413		0.408	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	76	0.00	0	G	NM_017654		92733848	92733848	-1	no_errors	ENST00000379958	ensembl	human	known	69_37n	silent	62	27.91	24	SNP	0.987	A
SCAF8	22828	genome.wustl.edu	37	6	155148305	155148305	+	Splice_Site	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:155148305G>T	ENST00000367178.3	+	18	2647		c.e18-1		SCAF8_ENST00000367186.4_Splice_Site|SCAF8_ENST00000417268.1_Splice_Site|RNU6-824P_ENST00000363724.1_RNA	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTCTGTCTAGGTTTCATGCC	0.358																																						dbGAP											0													115.0	119.0	118.0					6																	155148305		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2072-1G>T	6.37:g.155148305G>T			B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Splice_Site	SNP	-	e20-1	ENST00000367178.3	37	c.2270-1	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177490	0.38413	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7112	0.88322	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCAF8	155189997	1.000000	0.71417	0.996000	0.52242	0.239000	0.25481	5.995000	0.70631	2.532000	0.85374	0.561000	0.74099	.	SCAF8	-	-	ENSG00000213079		0.358	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	134	0.00	0	G	NM_014892	Intron	155148305	155148305	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	splice_site	31	68.69	68	SNP	1.000	T
SCN3A	6328	genome.wustl.edu	37	2	165972038	165972040	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:165972038_165972040delAAC	ENST00000360093.3	-	19	3930_3932	c.3439_3441delGTT	c.(3439-3441)gttdel	p.V1147del	SCN3A_ENST00000409101.3_In_Frame_Del_p.V1098del|SCN3A_ENST00000283254.7_In_Frame_Del_p.V1147del	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1147					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCGGGGTAGAACAACATCAACT	0.384																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3439_3441delGTT	2.37:g.165972041_165972043delAAC	ENSP00000353206:p.Val1147del		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V1147in_frame_del	ENST00000360093.3	37	c.3441_3439		2																																																																																			SCN3A	-	pfam_Na_trans_assoc	ENSG00000153253		0.384	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		144	0.00	0	AAC	NM_006922		165972038	165972040	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	in_frame_del	105	30.07	46	DEL	0.987:1.000:1.000	-
SCN7A	6332	genome.wustl.edu	37	2	167289026	167289026	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:167289026C>T	ENST00000409855.1	-	15	2520	c.2394G>A	c.(2392-2394)ttG>ttA	p.L798L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	798					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GGGTGTTGCTCAATTCAGAAA	0.378																																						dbGAP											0													240.0	226.0	230.0					2																	167289026		1835	4084	5919	-	-	-	SO:0001819	synonymous_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2394G>A	2.37:g.167289026C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L798	ENST00000409855.1	37	c.2394	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Na_trans_assoc	ENSG00000136546		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	186	0.00	0	C			167289026	167289026	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	silent	186	29.28	77	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71431698	71431698	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:71431698G>A	ENST00000392650.3	-	9	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	SDK2_ENST00000388726.3_Silent_p.D362D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	362	Ig-like C2-type 4.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCAGGCCCCCGTCGTTGCGCT	0.652																																						dbGAP											0													48.0	34.0	39.0					17																	71431698		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1086C>T	17.37:g.71431698G>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D362	ENST00000392650.3	37	c.1086	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	8.555	0.876534	0.17395	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.84	-1.55	0.08558	.	.	.	.	.	T	0.51415	0.1673	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44019	-0.9355	4	.	.	.	.	7.0384	0.25006	0.4888:0.0:0.3981:0.1131	.	.	.	.	W	267	.	.	R	-	1	2	SDK2	68943293	0.001000	0.12720	0.847000	0.33407	0.813000	0.45954	-1.826000	0.01705	-0.125000	0.11703	-0.254000	0.11334	CGG	SDK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000069188		0.652	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	45	0.00	0	G	NM_019064		71431698	71431698	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	silent	6	53.85	7	SNP	0.467	A
SEC14L3	266629	genome.wustl.edu	37	22	30857624	30857624	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:30857624G>C	ENST00000215812.4	-	10	919	c.829C>G	c.(829-831)Cag>Gag	p.Q277E	SEC14L3_ENST00000539629.1_Missense_Mutation_p.Q218E|SEC14L3_ENST00000403066.1_Missense_Mutation_p.Q218E|SEC14L3_ENST00000401751.1_Missense_Mutation_p.Q218E|SEC14L3_ENST00000540910.1_Missense_Mutation_p.Q200E|SEC14L3_ENST00000402286.1_Missense_Mutation_p.Q200E|SEC14L3_ENST00000415957.2_Missense_Mutation_p.Q218E	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	277	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGCTCGTACTGAGTCTTCACC	0.572																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	dbGAP											0													113.0	94.0	101.0					22																	30857624		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.829C>G	22.37:g.30857624G>C	ENSP00000215812:p.Gln277Glu		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.Q277E	ENST00000215812.4	37	c.829	CCDS13877.1	22	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807225	0.31961	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.86	3.77	0.43336	GOLD (2);	0.167649	0.53938	D	0.000059	T	0.26376	0.0644	L	0.45422	1.42	0.80722	D	1	B;B	0.13594	0.008;0.004	B;B	0.10450	0.005;0.002	T	0.05699	-1.0869	10	0.14252	T	0.57	-18.3659	8.5514	0.33453	0.0697:0.0:0.6569:0.2734	.	200;277	E9PE57;Q9UDX4	.;S14L3_HUMAN	E	218;218;277;200;218;218;200	ENSP00000385941:Q218E;ENSP00000401864:Q218E;ENSP00000215812:Q277E;ENSP00000385004:Q200E;ENSP00000383896:Q218E;ENSP00000444691:Q218E;ENSP00000439752:Q200E	ENSP00000215812:Q277E	Q	-	1	0	SEC14L3	29187624	0.694000	0.27738	0.908000	0.35775	0.850000	0.48378	1.213000	0.32407	0.811000	0.34303	0.655000	0.94253	CAG	SEC14L3	-	superfamily_GOLD,pfscan_GOLD	ENSG00000100012		0.572	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	HGNC	protein_coding	OTTHUMT00000321950.4	82	0.00	0	G	NM_174975		30857624	30857624	-1	no_errors	ENST00000215812	ensembl	human	known	69_37n	missense	25	60.94	39	SNP	0.870	C
SEMA3C	10512	genome.wustl.edu	37	7	80374310	80374310	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:80374310C>T	ENST00000265361.3	-	18	2717	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	SEMA3C_ENST00000419255.2_Missense_Mutation_p.G719E|SEMA3C_ENST00000544525.1_Missense_Mutation_p.G737E	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	719					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGATTCATCTCCCTGCTGATG	0.458																																						dbGAP											0													155.0	140.0	145.0					7																	80374310		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2156G>A	7.37:g.80374310C>T	ENSP00000265361:p.Gly719Glu		B4DRL8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.G737E	ENST00000265361.3	37	c.2210	CCDS5596.1	7	.	.	.	.	.	.	.	.	.	.	C	0	-2.666973	0.00105	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.24151	1.87;1.87;1.87	5.28	1.11	0.20524	.	0.369889	0.31188	N	0.008084	T	0.08044	0.0201	N	0.03608	-0.345	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.35450	-0.9788	10	0.09843	T	0.71	.	5.0691	0.14596	0.2445:0.332:0.3566:0.0668	.	737;719	F5H1Z7;Q99985	.;SEM3C_HUMAN	E	719;719;737	ENSP00000265361:G719E;ENSP00000411193:G719E;ENSP00000445649:G737E	ENSP00000265361:G719E	G	-	2	0	SEMA3C	80212246	0.003000	0.15002	0.085000	0.20634	0.034000	0.12701	1.169000	0.31871	0.197000	0.20387	-0.310000	0.09108	GGA	SEMA3C	-	NULL	ENSG00000075223		0.458	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1	149	0.00	0	C	NM_006379		80374310	80374310	-1	no_errors	ENST00000544525	ensembl	human	known	69_37n	missense	120	27.27	45	SNP	0.011	T
SEMA3A	10371	genome.wustl.edu	37	7	83764203	83764203	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:83764203G>T	ENST00000265362.4	-	2	491	c.177C>A	c.(175-177)acC>acA	p.T59T	SEMA3A_ENST00000436949.1_Silent_p.T59T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	59	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCAAAAGGAAGGTATGATAAC	0.393																																						dbGAP											0													116.0	108.0	111.0					7																	83764203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.177C>A	7.37:g.83764203G>T				Silent	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.T59	ENST00000265362.4	37	c.177	CCDS5599.1	7																																																																																			SEMA3A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000075213		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	108	0.00	0	G	NM_006080		83764203	83764203	-1	no_errors	ENST00000265362	ensembl	human	known	69_37n	silent	73	25.51	25	SNP	0.973	T
SEMA4F	10505	genome.wustl.edu	37	2	74906801	74906801	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:74906801G>C	ENST00000357877.2	+	14	1927	c.1778G>C	c.(1777-1779)tGg>tCg	p.W593S	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.W438S	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	593	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGCTCAGCATGGGCATCCTGT	0.587																																						dbGAP											0													146.0	130.0	136.0					2																	74906801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1778G>C	2.37:g.74906801G>C	ENSP00000350547:p.Trp593Ser		Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.W593S	ENST00000357877.2	37	c.1778	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632966	0.67015	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.20332	2.27;2.08	5.11	5.11	0.69529	.	0.000000	0.47852	D	0.000210	T	0.20088	0.0483	N	0.08118	0	0.58432	D	0.999999	P;P	0.52316	0.952;0.918	P;P	0.54499	0.754;0.573	T	0.08452	-1.0721	10	0.45353	T	0.12	.	14.0425	0.64684	0.0:0.0:1.0:0.0	.	438;593	O95754-2;O95754	.;SEM4F_HUMAN	S	593;438	ENSP00000350547:W593S;ENSP00000342675:W438S	ENSP00000342675:W438S	W	+	2	0	SEMA4F	74760309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.113000	0.57851	2.376000	0.81061	0.467000	0.42956	TGG	SEMA4F	-	NULL	ENSG00000135622		0.587	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	97	0.00	0	G	NM_004263		74906801	74906801	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	missense	66	34.00	34	SNP	1.000	C
SEMA6D	80031	genome.wustl.edu	37	15	48056840	48056840	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:48056840G>A	ENST00000316364.5	+	12	1542	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SEMA6D_ENST00000558816.1_Missense_Mutation_p.G368D|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G368D|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G368D|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G368D|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G368D|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G368D|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G368D|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G368D|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G368D|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G368D|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G368D	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	368	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCAGGCCTGGCTGTTGTGCA	0.458																																						dbGAP											0													80.0	76.0	77.0					15																	48056840		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1103G>A	15.37:g.48056840G>A	ENSP00000324857:p.Gly368Asp		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.G368D	ENST00000316364.5	37	c.1103	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.564218	0.96527	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.77744	-0.2473	10	0.87932	D	0	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	368;368;368;368;368	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	D	368	ENSP00000442040:G368D;ENSP00000446152:G368D;ENSP00000324857:G368D;ENSP00000374084:G368D;ENSP00000374083:G368D;ENSP00000346786:G368D;ENSP00000350770:G368D;ENSP00000374079:G368D;ENSP00000348276:G368D;ENSP00000374076:G368D	ENSP00000324857:G368D	G	+	2	0	SEMA6D	45844132	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.721000	0.98766	2.760000	0.94817	0.655000	0.94253	GGC	SEMA6D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000137872		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	55	0.00	0	G	NM_024966		48056840	48056840	+1	no_errors	ENST00000316364	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	A
SERPINA11	256394	genome.wustl.edu	37	14	94909049	94909049	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:94909049G>C	ENST00000334708.3	-	5	1227	c.1163C>G	c.(1162-1164)tCa>tGa	p.S388*	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	388					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		ATGTGGGTCTGACATGGTGTT	0.572																																						dbGAP											0													78.0	74.0	75.0					14																	94909049		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.1163C>G	14.37:g.94909049G>C	ENSP00000335024:p.Ser388*		B2RV07	Nonsense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.S388*	ENST00000334708.3	37	c.1163	CCDS32149.1	14	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523831	0.44866	.	.	ENSG00000186910	ENST00000334708	.	.	.	5.27	-7.99	0.01131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.5348	0.67953	0.1495:0.7133:0.1373:0.0	.	.	.	.	X	388	.	ENSP00000335024:S388X	S	-	2	0	SERPINA11	93978802	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.185000	0.09684	-1.051000	0.03226	0.561000	0.74099	TCA	SERPINA11	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000186910		0.572	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA11	HGNC	protein_coding	OTTHUMT00000413091.1	114	0.87	1	G	NM_001080451		94909049	94909049	-1	no_errors	ENST00000334708	ensembl	human	known	69_37n	nonsense	42	32.26	20	SNP	0.000	C
SERPINB4	6318	genome.wustl.edu	37	18	61305175	61305175	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:61305175C>T	ENST00000341074.5	-	8	1066	c.951G>A	c.(949-951)atG>atA	p.M317I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.M265I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	317					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GGCTCCAGGTCATGCCTGAGA	0.517																																						dbGAP											0													161.0	141.0	148.0					18																	61305175		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.951G>A	18.37:g.61305175C>T	ENSP00000343445:p.Met317Ile		A8K847	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.M317I	ENST00000341074.5	37	c.951	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947451	0.53186	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.83419	-1.72;-1.72	4.51	4.51	0.55191	Serpin domain (3);	0.131844	0.34460	N	0.003944	T	0.80412	0.4618	L	0.33485	1.01	0.34694	D	0.726002	P;B;B	0.41710	0.76;0.324;0.432	P;B;B	0.45794	0.493;0.181;0.344	D	0.86040	0.1519	10	0.48119	T	0.1	.	16.7417	0.85461	0.0:1.0:0.0:0.0	.	317;317;296	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	317;265	ENSP00000343445:M317I;ENSP00000348795:M265I	ENSP00000343445:M317I	M	-	3	0	SERPINB4	59456155	0.006000	0.16342	0.948000	0.38648	0.319000	0.28217	0.173000	0.16724	2.488000	0.83962	0.609000	0.83330	ATG	SERPINB4	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000206073		0.517	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	HGNC	protein_coding	OTTHUMT00000133794.2	115	0.00	0	C	NM_175041		61305175	61305175	-1	no_errors	ENST00000341074	ensembl	human	known	69_37n	missense	50	50.00	50	SNP	0.998	T
SERPINB3	6317	genome.wustl.edu	37	18	61325785	61325785	+	Missense_Mutation	SNP	C	C	T	rs143123968		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:61325785C>T	ENST00000283752.5	-	5	574	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.R144Q	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	144					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AATCTTCTTTCGACTTTCTTC	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17250	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													108.0	98.0	101.0					18																	61325785		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.431G>A	18.37:g.61325785C>T	ENSP00000283752:p.Arg144Gln		A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.R144Q	ENST00000283752.5	37	c.431	CCDS11987.1	18	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219965	0.39201	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.85629	-2.01;-2.01	2.97	0.091	0.14466	Serpin domain (3);	1.724580	0.04205	N	0.330695	T	0.81564	0.4849	L	0.58510	1.815	0.09310	N	1	P;P;P	0.47677	0.453;0.899;0.899	B;B;B	0.39152	0.137;0.292;0.292	T	0.69510	-0.5126	10	0.59425	D	0.04	.	7.3467	0.26668	0.0:0.6803:0.0:0.3197	.	144;144;144	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	Q	144	ENSP00000283752:R144Q;ENSP00000329498:R144Q	ENSP00000283752:R144Q	R	-	2	0	SERPINB3	59476765	0.002000	0.14202	0.152000	0.22495	0.606000	0.37113	1.498000	0.35660	0.002000	0.14630	-0.391000	0.06502	CGA	SERPINB3	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000057149		0.403	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	HGNC	protein_coding	OTTHUMT00000133791.1	221	0.00	0	C	NM_006919		61325785	61325785	-1	no_errors	ENST00000283752	ensembl	human	known	69_37n	missense	108	48.08	100	SNP	0.015	T
SERTAD2	9792	genome.wustl.edu	37	2	64863616	64863616	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:64863616G>A	ENST00000313349.3	-	2	687	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	130					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGCCGGGGTGAGGCAGGCCT	0.687																																						dbGAP											0													43.0	47.0	46.0					2																	64863616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.390C>T	2.37:g.64863616G>A			Q53TS2	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.L130	ENST00000313349.3	37	c.390	CCDS33210.1	2																																																																																			SERTAD2	-	NULL	ENSG00000179833		0.687	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD2	HGNC	protein_coding	OTTHUMT00000327322.2	70	0.00	0	G	NM_014755		64863616	64863616	-1	no_errors	ENST00000313349	ensembl	human	known	69_37n	silent	39	17.02	8	SNP	1.000	A
SERTM1	400120	genome.wustl.edu	37	13	37269304	37269304	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:37269304C>T	ENST00000315190.3	+	2	535	c.89C>T	c.(88-90)tCa>tTa	p.S30L		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	30						integral component of membrane (GO:0016021)											CTGTCCACGTCAGTGGACCCA	0.478																																						dbGAP											0													200.0	174.0	183.0					13																	37269304		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.89C>T	13.37:g.37269304C>T	ENSP00000325776:p.Ser30Leu		Q8N469	Missense_Mutation	SNP	NULL	p.S30L	ENST00000315190.3	37	c.89	CCDS9358.1	13	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911197	0.52439	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.1	5.1	0.69264	.	0.384675	0.26915	N	0.021856	T	0.37073	0.0990	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38866	-0.9641	9	0.72032	D	0.01	-4.3377	17.4901	0.87701	0.0:1.0:0.0:0.0	.	30	A2A2V5	SRTM1_HUMAN	L	30	.	ENSP00000325776:S30L	S	+	2	0	SERTM1	36167304	0.921000	0.31238	0.734000	0.30879	0.917000	0.54804	3.684000	0.54671	2.345000	0.79718	0.563000	0.77884	TCA	SERTM1	-	NULL	ENSG00000180440		0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTM1	HGNC	protein_coding	OTTHUMT00000044518.2	119	0.00	0	C	NM_203451		37269304	37269304	+1	no_errors	ENST00000315190	ensembl	human	known	69_37n	missense	46	45.88	39	SNP	0.097	T
SETBP1	26040	genome.wustl.edu	37	18	42532585	42532585	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:42532585C>G	ENST00000282030.5	+	4	3576	c.3280C>G	c.(3280-3282)Cag>Gag	p.Q1094E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1094						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCCACCACCTCAGTTCCACAC	0.527									Schinzel-Giedion syndrome																													dbGAP											0													118.0	99.0	106.0					18																	42532585		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3280C>G	18.37:g.42532585C>G	ENSP00000282030:p.Gln1094Glu		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.Q1094E	ENST00000282030.5	37	c.3280	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235770	0.39498	.	.	ENSG00000152217	ENST00000282030	T	0.68479	-0.33	5.88	5.01	0.66863	.	0.061302	0.64402	D	0.000003	T	0.50837	0.1639	N	0.14661	0.345	0.30896	N	0.729764	B	0.12013	0.005	B	0.14578	0.011	T	0.46442	-0.9191	10	0.22706	T	0.39	.	17.1078	0.86668	0.0:0.8733:0.1267:0.0	.	1094	Q9Y6X0	SETBP_HUMAN	E	1094	ENSP00000282030:Q1094E	ENSP00000282030:Q1094E	Q	+	1	0	SETBP1	40786583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.813000	0.69201	1.491000	0.48482	0.561000	0.74099	CAG	SETBP1	-	NULL	ENSG00000152217		0.527	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	84	0.00	0	C	NM_001130110		42532585	42532585	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	missense	23	54.00	27	SNP	1.000	G
SFSWAP	6433	genome.wustl.edu	37	12	132249183	132249183	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:132249183G>A	ENST00000261674.4	+	12	2044	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E635K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	635					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGTAGTTGTTGAGGAGAAGAA	0.413																																						dbGAP											0													75.0	65.0	68.0					12																	132249183		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1903G>A	12.37:g.132249183G>A	ENSP00000261674:p.Glu635Lys		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E635K	ENST00000261674.4	37	c.1903	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474346	0.84640	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.25085	2.8;1.82;2.78	4.99	4.99	0.66335	.	0.043804	0.85682	D	0.000000	T	0.47303	0.1438	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.21655	-1.0239	10	0.23891	T	0.37	-31.6759	18.627	0.91344	0.0:0.0:1.0:0.0	.	635;635	F5H6B8;Q12872	.;SFSWA_HUMAN	K	635;428;635	ENSP00000261674:E635K;ENSP00000443045:E428K;ENSP00000437738:E635K	ENSP00000261674:E635K	E	+	1	0	SFSWAP	130815136	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	8.514000	0.90545	2.478000	0.83669	0.491000	0.48974	GAG	SFSWAP	-	NULL	ENSG00000061936		0.413	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	55	0.00	0	G	NM_004592		132249183	132249183	+1	no_errors	ENST00000261674	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	0.999	A
SGSM1	129049	genome.wustl.edu	37	22	25272622	25272622	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:25272622C>T	ENST00000400359.4	+	14	1542	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L	SGSM1_ENST00000400358.4_Missense_Mutation_p.S457L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	512						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCTCCTGTTCATCCTGTTCA	0.577																																						dbGAP											0													104.0	106.0	105.0					22																	25272622		1990	4160	6150	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1535C>T	22.37:g.25272622C>T	ENSP00000383212:p.Ser512Leu		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.S512L	ENST00000400359.4	37	c.1535	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909133	0.52439	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07444	3.19;3.29	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.19112	0.55	0.80722	D	1	P;B;B;D	0.53885	0.891;0.169;0.311;0.963	P;B;B;P	0.48334	0.487;0.08;0.162;0.574	T	0.24190	-1.0167	10	0.35671	T	0.21	-5.6169	17.8734	0.88817	0.0:1.0:0.0:0.0	.	457;573;590;512	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	L	573;457;512	ENSP00000383211:S457L;ENSP00000383212:S512L	ENSP00000383211:S457L	S	+	2	0	SGSM1	23602622	1.000000	0.71417	0.962000	0.40283	0.614000	0.37383	7.131000	0.77243	2.538000	0.85594	0.563000	0.77884	TCA	SGSM1	-	NULL	ENSG00000167037		0.577	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	133	0.00	0	C	XM_059318		25272622	25272622	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	37	47.89	34	SNP	1.000	T
SGSM3	27352	genome.wustl.edu	37	22	40800417	40800417	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:40800417C>T	ENST00000248929.9	+	5	513	c.324C>T	c.(322-324)cgC>cgT	p.R108R	SGSM3_ENST00000454798.2_Silent_p.R41R	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AGAAGCTCCGCTCCCTGGTGC	0.632																																						dbGAP											0													51.0	43.0	45.0					22																	40800417		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.324C>T	22.37:g.40800417C>T				Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.R108	ENST00000248929.9	37	c.324	CCDS14002.1	22																																																																																			SGSM3	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000100359		0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2	60	0.00	0	C	NM_015705		40800417	40800417	+1	no_errors	ENST00000248929	ensembl	human	known	69_37n	silent	9	60.87	14	SNP	0.989	T
SH2B1	25970	genome.wustl.edu	37	16	28885049	28885049	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:28885049C>A	ENST00000322610.8	+	11	2618	c.2179C>A	c.(2179-2181)Cca>Aca	p.P727T	SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	727					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGGGTGCCCCCAATGGTGCA	0.652											OREG0023708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													39.0	51.0	47.0					16																	28885049		692	1591	2283	-	-	-	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.2179C>A	16.37:g.28885049C>A	ENSP00000321221:p.Pro727Thr	805	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2	p.P727T	ENST00000322610.8	37	c.2179	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557293	0.03967	.	.	ENSG00000178188	ENST00000322610	T	0.51071	0.72	5.26	3.3	0.37823	.	1.497460	0.04496	N	0.380348	T	0.30166	0.0756	N	0.08118	0	0.20764	N	0.999853	B	0.15141	0.012	B	0.17433	0.018	T	0.18429	-1.0337	9	.	.	.	0.0199	9.1985	0.37242	0.0:0.8229:0.0:0.1771	.	727	Q9NRF2	SH2B1_HUMAN	T	727	ENSP00000321221:P727T	.	P	+	1	0	SH2B1	28792550	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	1.186000	0.32078	1.206000	0.43276	-0.150000	0.13652	CCA	SH2B1	-	NULL	ENSG00000178188		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	59	0.00	0	C	NM_015503		28885049	28885049	+1	no_errors	ENST00000322610	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.002	A
SH3BP4	23677	genome.wustl.edu	37	2	235950796	235950796	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:235950796C>G	ENST00000409212.1	+	4	1890	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	SH3BP4_ENST00000392011.2_Silent_p.L461L|SH3BP4_ENST00000344528.4_Silent_p.L461L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	461					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAAGCATCCTCTACCCTTCCA	0.557																																						dbGAP											0													55.0	55.0	55.0					2																	235950796		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1383C>G	2.37:g.235950796C>G			O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L461	ENST00000409212.1	37	c.1383	CCDS2513.1	2																																																																																			SH3BP4	-	NULL	ENSG00000130147		0.557	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	37	0.00	0	C			235950796	235950796	+1	no_errors	ENST00000344528	ensembl	human	known	69_37n	silent	23	37.84	14	SNP	0.618	G
SIGLEC16	400709	genome.wustl.edu	37	19	50475228	50475228	+	RNA	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:50475228delC	ENST00000602139.1	+	0	1174							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						AGACCGTGGGCCCCTCCCAGC	0.692																																						dbGAP											0																																										-	-	-			0			BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475228delC				Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S385fs	ENST00000602139.1	37	c.1149		19																																																																																			SIGLEC16	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000161643		0.692	SIGLEC16-001	KNOWN	basic	processed_transcript	SIGLEC16	HGNC	pseudogene	OTTHUMT00000464979.1	34	0.00	0	C	NR_002825		50475228	50475228	+1	no_errors	ENST00000456956	ensembl	human	known	69_37n	frame_shift_del	13	39.13	9	DEL	0.000	-
SKIV2L	6499	genome.wustl.edu	37	6	31930342	31930342	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:31930342C>T	ENST00000375394.2	+	11	1304	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	SKIV2L_ENST00000544581.1_Silent_p.I204I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	397	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCTGCCTCATCATGACCACAG	0.577																																						dbGAP											0													58.0	54.0	55.0					6																	31930342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1191C>T	6.37:g.31930342C>T			O15005|Q12902|Q15476|Q5ST66	Silent	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I397	ENST00000375394.2	37	c.1191	CCDS4731.1	6																																																																																			SKIV2L	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd	ENSG00000204351		0.577	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	51	0.00	0	C			31930342	31930342	+1	no_errors	ENST00000375394	ensembl	human	known	69_37n	silent	8	78.38	29	SNP	0.999	T
SLC1A6	6511	genome.wustl.edu	37	19	15083567	15083567	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:15083567G>A	ENST00000221742.3	-	1	163	c.156C>T	c.(154-156)ttC>ttT	p.F52F	SLC1A6_ENST00000598504.1_Silent_p.F52F|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P57S|SLC1A6_ENST00000544886.2_Silent_p.F52F|SLC1A6_ENST00000600144.1_Silent_p.F52F	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	52					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TTCGGCGCAGGAAGCGCAGCA	0.662																																						dbGAP											0													29.0	29.0	29.0					19																	15083567		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.156C>T	19.37:g.15083567G>A			Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.P57S	ENST00000221742.3	37	c.169	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355913	0.24598	.	.	ENSG00000105143	ENST00000430939	T	0.75050	-0.9	4.46	4.46	0.54185	.	.	.	.	.	T	0.72170	0.3427	.	.	.	0.80722	D	1	P	0.40050	0.7	B	0.42319	0.383	T	0.76493	-0.2939	8	0.87932	D	0	-26.6355	12.4519	0.55681	0.0:0.0:1.0:0.0	.	57	E7EV13	.	S	57	ENSP00000409386:P57S	ENSP00000409386:P57S	P	-	1	0	SLC1A6	14944567	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	3.370000	0.52372	2.306000	0.77630	0.313000	0.20887	CCT	SLC1A6	-	NULL	ENSG00000105143		0.662	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	35	0.00	0	G	NM_005071		15083567	15083567	-1	no_errors	ENST00000430939	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	A
SLC25A34	284723	genome.wustl.edu	37	1	16065220	16065220	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:16065220C>T	ENST00000294454.5	+	4	810	c.729C>T	c.(727-729)ggC>ggT	p.G243G	SLC25A34_ENST00000489568.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	243					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACACAGCTGGCAGGGTGAGCA	0.612																																						dbGAP											0													41.0	41.0	41.0					1																	16065220		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.729C>T	1.37:g.16065220C>T			Q68DV0	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G243	ENST00000294454.5	37	c.729	CCDS162.1	1																																																																																			SLC25A34	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000162461		0.612	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A34	HGNC	protein_coding	OTTHUMT00000008467.1	58	0.00	0	C	NM_207348		16065220	16065220	+1	no_errors	ENST00000294454	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	1.000	T
SLC26A9	115019	genome.wustl.edu	37	1	205904876	205904876	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:205904876C>G	ENST00000367135.3	-	2	186	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	SLC26A9_ENST00000340781.4_Missense_Mutation_p.E25Q|SLC26A9_ENST00000367134.2_Missense_Mutation_p.E25Q|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	25					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.E25Q(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCTTCTTCTCAAACTCATCG	0.547																																						dbGAP											2	Substitution - Missense(2)	breast(2)											213.0	188.0	196.0					1																	205904876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.73G>C	1.37:g.205904876C>G	ENSP00000356103:p.Glu25Gln		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.E25Q	ENST00000367135.3	37	c.73	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337006	0.81801	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93076	-3.16;-3.12;-3.16	5.21	5.21	0.72293	.	0.512684	0.17144	N	0.185333	D	0.95598	0.8569	M	0.62723	1.935	0.50632	D	0.999882	D;D	0.76494	0.998;0.999	P;D	0.64144	0.863;0.922	D	0.94006	0.7280	10	0.27785	T	0.31	.	18.3498	0.90335	0.0:1.0:0.0:0.0	.	25;25	Q7LBE3;B1AVM8	S26A9_HUMAN;.	Q	25	ENSP00000341682:E25Q;ENSP00000356103:E25Q;ENSP00000356102:E25Q	ENSP00000341682:E25Q	E	-	1	0	SLC26A9	204171499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.839000	0.69395	2.448000	0.82819	0.655000	0.94253	GAG	SLC26A9	-	NULL	ENSG00000174502		0.547	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	194	0.00	0	C	NM_052934		205904876	205904876	-1	no_errors	ENST00000340781	ensembl	human	known	69_37n	missense	172	24.56	56	SNP	1.000	G
SLC46A1	113235	genome.wustl.edu	37	17	26727696	26727696	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:26727696G>C	ENST00000440501.1	-	5	1347	c.1252C>G	c.(1252-1254)Ctg>Gtg	p.L418V	SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.L389V|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	418					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	ATAAAGTTCAGAGTGGCTGGG	0.547																																						dbGAP											0													28.0	35.0	33.0					17																	26727696		2024	4215	6239	-	-	-	SO:0001583	missense	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1252C>G	17.37:g.26727696G>C	ENSP00000395653:p.Leu418Val		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L418V	ENST00000440501.1	37	c.1252		17	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780960	0.31502	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.80994	1.37;-1.44	5.67	1.49	0.22878	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.135508	0.50627	D	0.000102	T	0.78874	0.4352	.	.	.	0.51482	D	0.999925	D	0.60160	0.987	P	0.56127	0.792	T	0.73477	-0.3970	9	0.13108	T	0.6	-5.3648	10.5144	0.44881	0.327:0.0:0.673:0.0	.	418	Q96NT5	PCFT_HUMAN	V	418;389	ENSP00000395653:L418V;ENSP00000318828:L389V	ENSP00000318828:L389V	L	-	1	2	SLC46A1	23751823	0.997000	0.39634	0.996000	0.52242	0.979000	0.70002	2.179000	0.42528	0.769000	0.33313	-0.150000	0.13652	CTG	SLC46A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000076351		0.547	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		55	0.00	0	G	NM_080669		26727696	26727696	-1	no_errors	ENST00000440501	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.965	C
SLC4A3	6508	genome.wustl.edu	37	2	220505649	220505649	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:220505649C>T	ENST00000358055.3	+	22	4098	c.3586C>T	c.(3586-3588)Ctg>Ttg	p.L1196L	SLC4A3_ENST00000317151.3_Silent_p.L1196L|SLC4A3_ENST00000273063.6_Silent_p.L1223L|SLC4A3_ENST00000373762.3_Silent_p.L1223L|SLC4A3_ENST00000373760.2_Silent_p.L1196L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1196	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATTGCCTTCTGCCCCGGCT	0.622																																						dbGAP											0													47.0	44.0	45.0					2																	220505649		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3586C>T	2.37:g.220505649C>T			A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.L1223	ENST00000358055.3	37	c.3667	CCDS2445.1	2																																																																																			SLC4A3	-	tigrfam_HCO3_transpt_euk	ENSG00000114923		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	98	0.00	0	C	NM_005070		220505649	220505649	+1	no_errors	ENST00000273063	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.999	T
SLC4A4	8671	genome.wustl.edu	37	4	72400045	72400045	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:72400045G>A	ENST00000264485.5	+	18	2499	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	SLC4A4_ENST00000351898.6_Silent_p.L794L|SLC4A4_ENST00000425175.1_Silent_p.L794L|SLC4A4_ENST00000340595.3_Silent_p.L750L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	794					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TCACTATACTGATTTTCATGG	0.438																																						dbGAP											0													96.0	95.0	95.0					4																	72400045		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2382G>A	4.37:g.72400045G>A			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L794	ENST00000264485.5	37	c.2382	CCDS43236.1	4																																																																																			SLC4A4	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	92	0.00	0	G	NM_003759		72400045	72400045	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	silent	26	60.61	40	SNP	1.000	A
SLC5A2	6524	genome.wustl.edu	37	16	31499002	31499002	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:31499002C>T	ENST00000330498.3	+	7	826	c.807C>T	c.(805-807)ccC>ccT	p.P269P	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	269					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCCGGCACCCCGTGACCGGGG	0.667																																						dbGAP											0													30.0	31.0	31.0					16																	31499002		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.807C>T	16.37:g.31499002C>T			A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P269	ENST00000330498.3	37	c.807	CCDS10714.1	16																																																																																			SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.667	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	29	0.00	0	C			31499002	31499002	+1	no_errors	ENST00000330498	ensembl	human	known	69_37n	silent	4	78.95	15	SNP	0.999	T
SLC6A11	6538	genome.wustl.edu	37	3	10970889	10970889	+	Splice_Site	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:10970889T>C	ENST00000254488.2	+	10	1301	c.1235T>C	c.(1234-1236)tTt>tCt	p.F412S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	412					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCCATCCAGTTTGTGTGTGTG	0.592																																						dbGAP											0													182.0	176.0	178.0					3																	10970889		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1234-1T>C	3.37:g.10970889T>C			B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3,pfscan_Na/ntran_symport	p.F412S	ENST00000254488.2	37	c.1235	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764856	0.90020	.	.	ENSG00000132164	ENST00000254488	T	0.77489	-1.1	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.98256	4.185	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95162	0.8282	10	0.87932	D	0	.	15.2702	0.73696	0.0:0.0:0.0:1.0	.	412	P48066	S6A11_HUMAN	S	412	ENSP00000254488:F412S	ENSP00000254488:F412S	F	+	2	0	SLC6A11	10945889	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.856000	0.86956	2.007000	0.58848	0.379000	0.24179	TTT	SLC6A11	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000132164		0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	222	0.45	1	T	NM_014229	Missense_Mutation	10970889	10970889	+1	no_errors	ENST00000254488	ensembl	human	known	69_37n	missense	137	12.18	19	SNP	1.000	C
SLC9A5	6553	genome.wustl.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592																																						dbGAP											0													116.0	117.0	117.0					16																	67289057		2181	4284	6465	-	-	-	SO:0001819	synonymous_variant	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.624C>T	16.37:g.67289057C>T			A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.A57V	ENST00000299798.11	37	c.170	CCDS42178.1	16																																																																																			SLC9A5	-	pfam_Cation/H_exchanger	ENSG00000135740		0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	101	0.00	0	C			67289057	67289057	+1	pseudogene:no_stop_codon	ENST00000566626	ensembl	human	putative	69_37n	missense	66	24.14	21	SNP	0.999	T
SLC9C2	284525	genome.wustl.edu	37	1	173499130	173499130	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:173499130A>G	ENST00000367714.3	-	18	2649	c.2227T>C	c.(2227-2229)Tat>Cat	p.Y743H	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	743					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GTAATACTATACATCAAGCTG	0.328																																						dbGAP											0													138.0	130.0	133.0					1																	173499130		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2227T>C	1.37:g.173499130A>G	ENSP00000356687:p.Tyr743His		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Y743H	ENST00000367714.3	37	c.2227	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659058	0.67586	.	.	ENSG00000162753	ENST00000367714	T	0.23348	1.91	5.08	5.08	0.68730	.	0.153271	0.30329	N	0.009861	T	0.40297	0.1111	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42816	-0.9429	10	0.87932	D	0	-25.7333	11.2688	0.49127	1.0:0.0:0.0:0.0	.	743	Q5TAH2	S9A11_HUMAN	H	743	ENSP00000356687:Y743H	ENSP00000356687:Y743H	Y	-	1	0	SLC9A11	171765753	1.000000	0.71417	0.972000	0.41901	0.842000	0.47809	4.341000	0.59335	1.924000	0.55735	0.496000	0.49642	TAT	SLC9C2	-	NULL	ENSG00000162753		0.328	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	222	0.45	1	A	NM_178527		173499130	173499130	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	missense	173	36.86	101	SNP	0.992	G
SLCO4A1	28231	genome.wustl.edu	37	20	61300421	61300421	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:61300421C>G	ENST00000370507.1	+	10	2112	c.2016C>G	c.(2014-2016)ctC>ctG	p.L672L	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.L672L|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	672					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCATGGGGCTCCTGTACAAGG	0.612											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	dbGAP											0													40.0	38.0	39.0					20																	61300421		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.2016C>G	20.37:g.61300421C>G		1052	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L672	ENST00000370507.1	37	c.2016	CCDS13501.1	20																																																																																			SLCO4A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000101187		0.612	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	52	0.00	0	C	NM_016354		61300421	61300421	+1	no_errors	ENST00000217159	ensembl	human	known	69_37n	silent	16	42.86	12	SNP	0.011	G
SLIT2	9353	genome.wustl.edu	37	4	20521058	20521058	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:20521058T>C	ENST00000504154.1	+	12	1364	c.1112T>C	c.(1111-1113)cTg>cCg	p.L371P	SLIT2_ENST00000273739.5_Missense_Mutation_p.L375P|SLIT2_ENST00000503837.1_Missense_Mutation_p.L375P|SLIT2_ENST00000503823.1_Missense_Mutation_p.L371P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	371					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTGAAGGACTGTTTTCCTTA	0.318																																						dbGAP											0													63.0	64.0	63.0					4																	20521058		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1112T>C	4.37:g.20521058T>C	ENSP00000422591:p.Leu371Pro		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L371P	ENST00000504154.1	37	c.1112	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024773	0.75390	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80132	-0.1510	10	0.87932	D	0	.	15.1614	0.72788	0.0:0.0:0.0:1.0	.	371;371	O94813-3;O94813	.;SLIT2_HUMAN	P	371;371;375;375;375	ENSP00000427548:L371P;ENSP00000422591:L371P;ENSP00000273739:L375P;ENSP00000422261:L375P	ENSP00000273739:L375P	L	+	2	0	SLIT2	20130156	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	7.192000	0.77771	2.058000	0.61347	0.477000	0.44152	CTG	SLIT2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000145147		0.318	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	94	0.00	0	T			20521058	20521058	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	78	30.36	34	SNP	0.999	C
SLX4	84464	genome.wustl.edu	37	16	3658860	3658860	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:3658860C>T	ENST00000294008.3	-	2	746	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	36	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTAAGGCTTTCAGGCTGGTCT	0.468								Direct reversal of damage																														dbGAP											0													98.0	91.0	94.0					16																	3658860		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.106G>A	16.37:g.3658860C>T	ENSP00000294008:p.Glu36Lys		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E36K	ENST00000294008.3	37	c.106	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406110	0.42715	.	.	ENSG00000188827	ENST00000294008	T	0.01252	5.1	4.82	1.52	0.23074	.	0.943098	0.08739	N	0.900914	T	0.01156	0.0038	N	0.22421	0.69	0.09310	N	1	B	0.27997	0.197	B	0.24269	0.052	T	0.48980	-0.8986	10	0.36615	T	0.2	.	3.0683	0.06221	0.1826:0.5421:0.1771:0.0982	.	36	Q8IY92	SLX4_HUMAN	K	36	ENSP00000294008:E36K	ENSP00000294008:E36K	E	-	1	0	SLX4	3598861	0.019000	0.18553	0.014000	0.15608	0.050000	0.14768	0.879000	0.28146	0.551000	0.29008	0.655000	0.94253	GAA	SLX4	-	NULL	ENSG00000188827		0.468	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	73	0.00	0	C	NM_032444		3658860	3658860	-1	no_errors	ENST00000294008	ensembl	human	known	69_37n	missense	88	31.25	40	SNP	0.003	T
SMG7	9887	genome.wustl.edu	37	1	183519915	183519915	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:183519915C>T	ENST00000347615.2	+	20	3132	c.3013C>T	c.(3013-3015)Cat>Tat	p.H1005Y	SMG7_ENST00000456731.2_Missense_Mutation_p.H917Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H1013Y|SMG7_ENST00000367537.3_Missense_Mutation_p.H1038Y|SMG7_ENST00000507469.1_Missense_Mutation_p.H1009Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H959Y	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1005	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCAGTCTCCTCATTCCTCTAA	0.418																																						dbGAP											0													122.0	117.0	118.0					1																	183519915		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3013C>T	1.37:g.183519915C>T	ENSP00000340766:p.His1005Tyr		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.H1009Y	ENST00000347615.2	37	c.3025	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713538	0.89112	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.33865	1.43;1.46;1.4;1.51;1.39;1.4	5.45	5.45	0.79879	.	0.098510	0.64402	D	0.000001	T	0.50990	0.1648	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.63880	0.993;0.993;0.989;0.993;0.993	D;D;D;D;D	0.72982	0.968;0.968;0.979;0.968;0.968	T	0.52388	-0.8582	10	0.72032	D	0.01	-15.178	19.6597	0.95861	0.0:1.0:0.0:0.0	.	1013;917;959;1005;1009	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	Y	917;1038;1013;1005;1009;959	ENSP00000407629:H917Y;ENSP00000356507:H1038Y;ENSP00000426915:H1013Y;ENSP00000340766:H1005Y;ENSP00000425133:H1009Y;ENSP00000421358:H959Y	ENSP00000340766:H1005Y	H	+	1	0	SMG7	181786538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.071000	0.76770	2.708000	0.92522	0.650000	0.86243	CAT	SMG7	-	NULL	ENSG00000116698		0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	133	0.00	0	C	NM_014837		183519915	183519915	+1	no_errors	ENST00000507469	ensembl	human	known	69_37n	missense	134	30.21	58	SNP	1.000	T
SMOC2	64094	genome.wustl.edu	37	6	168949861	168949861	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:168949861G>T	ENST00000356284.2	+	7	835	c.615G>T	c.(613-615)caG>caT	p.Q205H	SMOC2_ENST00000354536.5_Missense_Mutation_p.Q216H	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	205					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAAGTCGGCAGAACAAAACCA	0.363																																						dbGAP											0													140.0	124.0	130.0					6																	168949861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.615G>T	6.37:g.168949861G>T	ENSP00000348630:p.Gln205His		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.Q216H	ENST00000356284.2	37	c.648	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	.	14.49	2.550692	0.45383	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.37058	1.22;1.22	5.02	4.14	0.48551	.	0.000000	0.64402	D	0.000001	T	0.13841	0.0335	N	0.08118	0	0.38404	D	0.945746	P;P	0.49783	0.744;0.928	B;P	0.47470	0.252;0.548	T	0.03394	-1.1041	10	0.52906	T	0.07	-5.2829	9.9671	0.41732	0.1596:0.0:0.8404:0.0	.	205;216	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	H	205;216;205	ENSP00000348630:Q205H;ENSP00000346537:Q216H	ENSP00000346537:Q216H	Q	+	3	2	SMOC2	168692710	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.616000	0.46376	2.327000	0.79052	0.650000	0.86243	CAG	SMOC2	-	superfamily_Thyroglobulin_1	ENSG00000112562		0.363	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	99	0.00	0	G			168949861	168949861	+1	no_errors	ENST00000354536	ensembl	human	known	69_37n	missense	85	27.97	33	SNP	1.000	T
SNED1	25992	genome.wustl.edu	37	2	241969770	241969770	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:241969770G>A	ENST00000310397.8	+	2	283	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.A95T|SNED1_ENST00000342631.6_Missense_Mutation_p.A95T|SNED1_ENST00000401884.1_Missense_Mutation_p.A95T	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	95					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTTCCCCATTGCCAAGGACCG	0.617																																						dbGAP											0													33.0	39.0	37.0					2																	241969770		2087	4228	6315	-	-	-	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.283G>A	2.37:g.241969770G>A	ENSP00000308893:p.Ala95Thr		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.A95T	ENST00000310397.8	37	c.283	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257434	0.80246	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.35	4.39	0.52855	.	.	.	.	.	T	0.70029	0.3177	N	0.21324	0.655	0.29451	N	0.858421	P	0.43857	0.819	B	0.41374	0.355	T	0.68428	-0.5411	9	0.59425	D	0.04	.	10.7894	0.46424	0.0:0.0:0.5738:0.4262	.	95	Q8TER0	SNED1_HUMAN	T	95	ENSP00000384871:A95T;ENSP00000386007:A95T;ENSP00000308893:A95T;ENSP00000342992:A95T	ENSP00000308893:A95T	A	+	1	0	SNED1	241618443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.985000	0.56930	2.507000	0.84556	0.655000	0.94253	GCC	SNED1	-	NULL	ENSG00000162804		0.617	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	62	0.00	0	G	XM_059482		241969770	241969770	+1	no_errors	ENST00000310397	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	A
SOGA1	140710	genome.wustl.edu	37	20	35414897	35414897	+	Frame_Shift_Del	DEL	G	G	-	rs374486778		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:35414897delG	ENST00000357779.3	-	15	4589	c.4263delC	c.(4261-4263)cccfs	p.P1421fs	SOGA1_ENST00000456801.2_Frame_Shift_Del_p.P1262fs|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Frame_Shift_Del_p.P1659fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1421					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCACTCGCTGGGGGGGAGTG	0.667																																						dbGAP											0													26.0	31.0	30.0					20																	35414897		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4263delC	20.37:g.35414897delG	ENSP00000350424:p.Pro1421fs		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Del	DEL	pfam_DUF3166	p.S1422fs	ENST00000357779.3	37	c.4263		20																																																																																			SOGA1	-	NULL	ENSG00000149639		0.667	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		30	0.00	0	G	NM_199181		35414897	35414897	-1	no_errors	ENST00000357779	ensembl	human	known	69_37n	frame_shift_del	8	33.33	5	DEL	0.644	-
SOX30	11063	genome.wustl.edu	37	5	157053418	157053418	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:157053418G>C	ENST00000265007.6	-	5	2533	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	SOX30_ENST00000519442.1_Missense_Mutation_p.S426C|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	731					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGATGCTAGAAGGAGTTGA	0.428																																					Esophageal Squamous(31;525 799 19355 21125 41744)	dbGAP											0													88.0	86.0	87.0					5																	157053418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.2192C>G	5.37:g.157053418G>C	ENSP00000265007:p.Ser731Cys		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S731C	ENST00000265007.6	37	c.2192	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464519	0.43736	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.98649	-4.89;-5.05	5.44	5.44	0.79542	.	0.105342	0.42821	D	0.000642	D	0.97914	0.9314	L	0.27053	0.805	0.40284	D	0.978433	D;D	0.69078	0.997;0.997	P;P	0.58013	0.819;0.831	D	0.99841	1.1062	10	0.87932	D	0	.	17.8072	0.88605	0.0:0.0:1.0:0.0	.	426;731	B4DXW7;O94993	.;SOX30_HUMAN	C	731;426	ENSP00000265007:S731C;ENSP00000427984:S426C	ENSP00000265007:S731C	S	-	2	0	SOX30	156985996	1.000000	0.71417	0.974000	0.42286	0.218000	0.24690	6.309000	0.72825	2.712000	0.92718	0.650000	0.86243	TCT	SOX30	-	NULL	ENSG00000039600		0.428	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	108	0.00	0	G	NM_007017		157053418	157053418	-1	no_errors	ENST00000265007	ensembl	human	known	69_37n	missense	87	32.56	42	SNP	1.000	C
SOX30	11063	genome.wustl.edu	37	5	157065288	157065288	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:157065288G>C	ENST00000265007.6	-	4	2171	c.1830C>G	c.(1828-1830)ttC>ttG	p.F610L	SOX30_ENST00000519442.1_Missense_Mutation_p.F305L|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	610	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGAAAAGAGAATCTTGGTG	0.483																																					Esophageal Squamous(31;525 799 19355 21125 41744)	dbGAP											0													78.0	78.0	78.0					5																	157065288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1830C>G	5.37:g.157065288G>C	ENSP00000265007:p.Phe610Leu		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.F610L	ENST00000265007.6	37	c.1830	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604786	0.66445	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.98862	-5.12;-5.19	5.61	4.74	0.60224	.	0.000000	0.64402	D	0.000008	D	0.97745	0.9260	L	0.27053	0.805	0.36864	D	0.88856	D;D	0.69078	0.997;0.997	D;D	0.75020	0.97;0.985	D	0.98586	1.0652	10	0.87932	D	0	.	7.4538	0.27255	0.2267:0.0:0.7733:0.0	.	305;610	B4DXW7;O94993	.;SOX30_HUMAN	L	610;305	ENSP00000265007:F610L;ENSP00000427984:F305L	ENSP00000265007:F610L	F	-	3	2	SOX30	156997866	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.080000	0.30779	1.376000	0.46267	-0.145000	0.13849	TTC	SOX30	-	NULL	ENSG00000039600		0.483	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	76	0.00	0	G	NM_007017		157065288	157065288	-1	no_errors	ENST00000265007	ensembl	human	known	69_37n	missense	30	30.23	13	SNP	1.000	C
SPATA7	55812	genome.wustl.edu	37	14	88904306	88904306	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:88904306C>T	ENST00000393545.4	+	12	1629	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	SPATA7_ENST00000356583.5_Missense_Mutation_p.S415L|SPATA7_ENST00000556553.1_Missense_Mutation_p.S415L|SPATA7_ENST00000045347.7_Intron	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	447					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GCTGGGAATTCAGAACCAAAT	0.368																																						dbGAP											0													66.0	62.0	63.0					14																	88904306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1340C>T	14.37:g.88904306C>T	ENSP00000377176:p.Ser447Leu		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.S447L	ENST00000393545.4	37	c.1340	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	C	4.951	0.176609	0.09443	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583	T;T;T	0.29142	1.58;1.6;1.58	5.87	4.99	0.66335	.	0.377488	0.24016	N	0.042339	T	0.26304	0.0642	L	0.42245	1.32	0.09310	N	1	B;B;B	0.28178	0.025;0.202;0.058	B;B;B	0.28991	0.022;0.097;0.022	T	0.15122	-1.0448	10	0.26408	T	0.33	-9.3644	11.3166	0.49396	0.0:0.9165:0.0:0.0835	.	415;415;447	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	L	415;447;415	ENSP00000451128:S415L;ENSP00000377176:S447L;ENSP00000348991:S415L	ENSP00000348991:S415L	S	+	2	0	SPATA7	87974059	0.001000	0.12720	0.023000	0.16930	0.006000	0.05464	0.779000	0.26746	1.634000	0.50500	0.655000	0.94253	TCA	SPATA7	-	NULL	ENSG00000042317		0.368	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1	74	0.00	0	C			88904306	88904306	+1	no_errors	ENST00000393545	ensembl	human	known	69_37n	missense	61	30.68	27	SNP	0.038	T
SPEN	23013	genome.wustl.edu	37	1	16255589	16255589	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:16255589G>A	ENST00000375759.3	+	11	3058	c.2854G>A	c.(2854-2856)Gtg>Atg	p.V952M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	952					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTTGAAGTGGTGGAGAAGGA	0.502																																						dbGAP											0													78.0	85.0	83.0					1																	16255589		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2854G>A	1.37:g.16255589G>A	ENSP00000364912:p.Val952Met		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.V952M	ENST00000375759.3	37	c.2854	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	g	0.744	-0.775132	0.02951	.	.	ENSG00000065526	ENST00000375759	T	0.53857	0.6	5.2	3.21	0.36854	.	.	.	.	.	T	0.56978	0.2022	L	0.50333	1.59	0.09310	N	1	P	0.49447	0.924	P	0.52710	0.707	T	0.45264	-0.9273	9	0.44086	T	0.13	-4.9636	10.8439	0.46733	0.0767:0.0:0.7886:0.1347	.	952	Q96T58	MINT_HUMAN	M	952	ENSP00000364912:V952M	ENSP00000364912:V952M	V	+	1	0	SPEN	16128176	0.260000	0.24053	0.029000	0.17559	0.001000	0.01503	1.637000	0.37155	1.437000	0.47472	-0.121000	0.15023	GTG	SPEN	-	NULL	ENSG00000065526		0.502	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	46	0.00	0	G	NM_015001		16255589	16255589	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	14	48.15	13	SNP	0.001	A
SPEN	23013	genome.wustl.edu	37	1	16265817	16265817	+	Silent	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:16265817G>T	ENST00000375759.3	+	15	11094	c.10890G>T	c.(10888-10890)ccG>ccT	p.P3630P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3630	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATCTTCCCGCCCTGTGAGT	0.587																																						dbGAP											0													204.0	191.0	195.0					1																	16265817		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10890G>T	1.37:g.16265817G>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P3630	ENST00000375759.3	37	c.10890	CCDS164.1	1																																																																																			SPEN	-	pfam_SPOC_C,superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000065526		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	165	0.00	0	G	NM_015001		16265817	16265817	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	29	53.23	33	SNP	0.923	T
SPTBN4	57731	genome.wustl.edu	37	19	41019290	41019290	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:41019290A>G	ENST00000352632.3	+	14	2680	c.2594A>G	c.(2593-2595)gAg>gGg	p.E865G	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E865G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E865G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E865G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E865G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	865					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTGTTCGCTGAGGTGACCGAA	0.697																																						dbGAP											0													22.0	25.0	24.0					19																	41019290		2200	4297	6497	-	-	-	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2594A>G	19.37:g.41019290A>G	ENSP00000263373:p.Glu865Gly		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E865G	ENST00000352632.3	37	c.2594	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997463	0.54147	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.53206	0.63;0.63;0.63	3.39	3.39	0.38822	.	0.190130	0.34386	N	0.004006	T	0.61553	0.2356	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.977	T	0.62714	-0.6796	10	0.51188	T	0.08	.	11.2143	0.48817	1.0:0.0:0.0:0.0	.	865;865	Q9H254;Q71S06	SPTN4_HUMAN;.	G	865	ENSP00000263373:E865G;ENSP00000340345:E865G;ENSP00000340741:E865G	ENSP00000340345:E865G	E	+	2	0	SPTBN4	45711130	1.000000	0.71417	0.992000	0.48379	0.152000	0.21847	6.937000	0.75898	1.561000	0.49584	0.260000	0.18958	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.697	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	29	0.00	0	A			41019290	41019290	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	G
SRC	6714	genome.wustl.edu	37	20	36026204	36026204	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:36026204C>T	ENST00000373578.2	+	9	1155	c.806C>T	c.(805-807)tCg>tTg	p.S269L	SRC_ENST00000373567.2_Missense_Mutation_p.S269L|SRC_ENST00000358208.4_Missense_Mutation_p.S269L|SRC_ENST00000445403.1_Missense_Mutation_p.S269L|SRC_ENST00000360723.4_Missense_Mutation_p.S275L|SRC_ENST00000373558.2_Missense_Mutation_p.S275L|SRC_ENST00000477066.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	269					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CCTCGGGAGTCGCTGCGGCTG	0.701																																						dbGAP											0													39.0	43.0	41.0					20																	36026204		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.806C>T	20.37:g.36026204C>T	ENSP00000362680:p.Ser269Leu		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.S275L	ENST00000373578.2	37	c.824	CCDS13294.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.555882	0.96514	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.36	4.36	0.52297	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76727	-0.2853	10	0.87932	D	0	.	14.4043	0.67071	0.0:1.0:0.0:0.0	.	269	P12931	SRC_HUMAN	L	269;269;275;269;269;275	ENSP00000408503:S269L;ENSP00000362680:S269L;ENSP00000353950:S275L;ENSP00000350941:S269L;ENSP00000362668:S269L;ENSP00000362659:S275L	ENSP00000350941:S269L	S	+	2	0	SRC	35459618	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	5.922000	0.70036	2.231000	0.72958	0.462000	0.41574	TCG	SRC	-	superfamily_Kinase-like_dom	ENSG00000197122		0.701	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	32	0.00	0	C	NM_005417		36026204	36026204	+1	no_errors	ENST00000360723	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	T
SRPK3	26576	genome.wustl.edu	37	X	153047644	153047644	+	Silent	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:153047644C>A	ENST00000370101.3	+	5	502	c.456C>A	c.(454-456)atC>atA	p.I152I	SRPK3_ENST00000370104.1_Silent_p.I152I|SRPK3_ENST00000489426.1_Silent_p.I219I|SRPK3_ENST00000370108.3_Silent_p.I152I|SRPK3_ENST00000393786.3_Silent_p.I152I|SRPK3_ENST00000370100.1_Silent_p.I110I	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCAGGATCTCAGGAGTCA	0.577																																					Esophageal Squamous(167;766 3400 32156)	dbGAP											0													106.0	97.0	100.0					X																	153047644		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.456C>A	X.37:g.153047644C>A			Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.S166Y	ENST00000370101.3	37	c.497	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444425	0.25987	.	.	ENSG00000184343	ENST00000430541	.	.	.	5.95	4.16	0.48862	.	.	.	.	.	T	0.60104	0.2243	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57335	-0.7829	4	.	.	.	-25.7871	9.7589	0.40519	0.1391:0.7841:0.0:0.0768	.	.	.	.	Y	166	.	.	S	+	2	0	SRPK3	152700838	0.995000	0.38212	1.000000	0.80357	0.940000	0.58332	0.519000	0.22862	1.242000	0.43836	0.600000	0.82982	TCT	SRPK3	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000184343		0.577	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	89	0.00	0	C	NM_014370		153047644	153047644	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430541	ensembl	human	putative	69_37n	missense	30	47.37	27	SNP	1.000	A
ST6GAL2	84620	genome.wustl.edu	37	2	107423287	107423287	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:107423287G>A	ENST00000409382.3	-	6	2047	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	ST6GAL2_ENST00000361686.4_Silent_p.L479L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	479					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGTACGCCCCGAGGGTGCAGG	0.597																																						dbGAP											0													80.0	70.0	74.0					2																	107423287		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1437C>T	2.37:g.107423287G>A			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R45W	ENST00000409382.3	37	c.133	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881281	0.17467	.	.	ENSG00000144057	ENST00000361803	.	.	.	5.8	-8.36	0.00980	.	.	.	.	.	T	0.50548	0.1622	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58803	-0.7572	4	.	.	.	-36.3377	10.781	0.46377	0.2463:0.5917:0.0986:0.0634	.	.	.	.	W	45	.	.	R	-	1	2	ST6GAL2	106789719	0.046000	0.20272	0.020000	0.16555	0.790000	0.44656	-0.528000	0.06193	-1.560000	0.01686	-2.645000	0.00150	CGG	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.597	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	65	0.00	0	G	NM_032528		107423287	107423287	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000361803	ensembl	human	known	69_37n	missense	42	23.21	13	SNP	0.851	A
STAG3L3	442578	genome.wustl.edu	37	7	72470029	72470029	+	RNA	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:72470029T>A	ENST00000428423.1	-	0	572							P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3							nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				CGGCCTCCACTGCCACACTGT	0.493																																						dbGAP											0													265.0	204.0	225.0					7																	72470029		2202	4298	6500	-	-	-			0					7q11.23	2014-02-20			ENSG00000174353	ENSG00000174353			33845	other	unknown							Standard	NR_040582		Approved		uc022afp.1	P0CL85	OTTHUMG00000157064		7.37:g.72470029T>A			A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Silent	SNP	superfamily_ARM-type_fold	p.A104	ENST00000428423.1	37	c.312		7																																																																																			STAG3L3	-	superfamily_ARM-type_fold	ENSG00000174353		0.493	STAG3L3-004	KNOWN	basic	processed_transcript	STAG3L3	HGNC	pseudogene	OTTHUMT00000347342.1	350	0.00	0	T	NM_001013739		72470029	72470029	-1	no_errors	ENST00000308103	ensembl	human	known	69_37n	silent	352	22.47	102	SNP	1.000	A
STARD9	57519	genome.wustl.edu	37	15	42973719	42973719	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:42973719G>T	ENST00000290607.7	+	21	2031	c.1974G>T	c.(1972-1974)gaG>gaT	p.E658D		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	658	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GCTACGTAGAGGATTTGAGGC	0.507																																						dbGAP											0													93.0	102.0	99.0					15																	42973719		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.1974G>T	15.37:g.42973719G>T	ENSP00000290607:p.Glu658Asp		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E658D	ENST00000290607.7	37	c.1974	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	9.818	1.185034	0.21870	.	.	ENSG00000159433	ENST00000290607	T	0.68181	-0.31	5.46	0.247	0.15521	.	.	.	.	.	T	0.52338	0.1728	L	0.34521	1.04	0.22762	N	0.998766	.	.	.	.	.	.	T	0.49399	-0.8944	7	0.62326	D	0.03	.	1.9	0.03265	0.3307:0.1201:0.4254:0.1237	.	.	.	.	D	658	ENSP00000290607:E658D	ENSP00000290607:E658D	E	+	3	2	STARD9	40761011	1.000000	0.71417	0.008000	0.14137	0.151000	0.21798	1.175000	0.31944	-0.123000	0.11745	-0.886000	0.02939	GAG	STARD9	-	NULL	ENSG00000159433		0.507	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	65	0.00	0	G			42973719	42973719	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	missense	23	41.03	16	SNP	0.992	T
STAT1	6772	genome.wustl.edu	37	2	191843677	191843677	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:191843677T>A	ENST00000361099.3	-	21	2165	c.1778A>T	c.(1777-1779)gAc>gTc	p.D593V	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.D593V|STAT1_ENST00000392322.3_Missense_Mutation_p.D593V|STAT1_ENST00000392323.2_Missense_Mutation_p.D595V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	593	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CGGCTGCTGGTCCTTCAACAG	0.577																																						dbGAP											0													52.0	48.0	50.0					2																	191843677		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1778A>T	2.37:g.191843677T>A	ENSP00000354394:p.Asp593Val		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.D593V	ENST00000361099.3	37	c.1778	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926385	0.52759	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.22	5.22	0.72569	SH2 motif (4);	0.280756	0.44902	D	0.000403	D	0.95153	0.8429	L	0.58969	1.84	0.80722	D	1	P;P	0.37158	0.576;0.585	B;B	0.42593	0.299;0.392	D	0.94670	0.7856	10	0.59425	D	0.04	-39.8548	10.7189	0.46030	0.0:0.0742:0.0:0.9258	.	593;593	P42224-2;P42224	.;STAT1_HUMAN	V	593;593;593;595	ENSP00000354394:D593V;ENSP00000386244:D593V;ENSP00000376136:D593V;ENSP00000376137:D595V	ENSP00000354394:D593V	D	-	2	0	STAT1	191551922	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.087000	0.50167	2.317000	0.78254	0.460000	0.39030	GAC	STAT1	-	pfam_SH2,pfscan_SH2	ENSG00000115415		0.577	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	45	0.00	0	T	NM_007315		191843677	191843677	-1	no_errors	ENST00000361099	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	1.000	A
STK33	65975	genome.wustl.edu	37	11	8483385	8483385	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:8483385G>A	ENST00000447869.1	-	4	1443	c.525C>T	c.(523-525)atC>atT	p.I175I	STK33_ENST00000396673.1_Silent_p.I175I|STK33_ENST00000315204.1_Silent_p.I175I|STK33_ENST00000534493.1_Silent_p.I134I|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000396672.1_Silent_p.I175I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CCAGATGTATGATGTGTTCAT	0.353																																						dbGAP											0													211.0	194.0	200.0					11																	8483385		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.525C>T	11.37:g.8483385G>A			Q658S6|Q8NEF5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I175	ENST00000447869.1	37	c.525	CCDS7789.1	11																																																																																			STK33	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000130413		0.353	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	234	0.00	0	G	NM_030906		8483385	8483385	-1	no_errors	ENST00000315204	ensembl	human	known	69_37n	silent	88	48.84	84	SNP	0.997	A
STRADB	55437	genome.wustl.edu	37	2	202344866	202344866	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:202344866C>G	ENST00000194530.3	+	12	1590	c.1225C>G	c.(1225-1227)Cct>Gct	p.P409A	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	409					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATGTGATTTTCCTGATGAAAA	0.398																																						dbGAP											0													139.0	139.0	139.0					2																	202344866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1225C>G	2.37:g.202344866C>G	ENSP00000194530:p.Pro409Ala		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P409A	ENST00000194530.3	37	c.1225	CCDS2348.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.189|6.189	0.403060|0.403060	0.11754|0.11754	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392866|ENST00000415688	T|.	0.60672|.	0.17|.	5.55|5.55	3.66|3.66	0.41972|0.41972	.|.	0.396204|.	0.27531|.	N|.	0.018945|.	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.14661|0.14661	0.345|0.345	0.27974|0.27974	N|N	0.936275|0.936275	B|.	0.12630|.	0.006|.	B|.	0.04013|.	0.001|.	T|T	0.15838|0.15838	-1.0423|-1.0423	10|5	0.08381|.	T|.	0.77|.	.|.	8.8505|8.8505	0.35196|0.35196	0.3597:0.4492:0.1911:0.0|0.3597:0.4492:0.1911:0.0	.|.	409|.	Q9C0K7|.	STRAB_HUMAN|.	A|C	409;409;271|79	ENSP00000194530:P409A|.	ENSP00000194530:P409A|.	P|S	+|+	1|2	0|0	STRADB|STRADB	202053111|202053111	0.738000|0.738000	0.28186|0.28186	0.995000|0.995000	0.50966|0.50966	0.466000|0.466000	0.32739|0.32739	0.561000|0.561000	0.23515|0.23515	1.559000|1.559000	0.49555|0.49555	0.655000|0.655000	0.94253|0.94253	CCT|TCC	STRADB	-	NULL	ENSG00000082146		0.398	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	88	0.00	0	C	NM_018571		202344866	202344866	+1	no_errors	ENST00000194530	ensembl	human	known	69_37n	missense	65	32.99	32	SNP	0.959	G
STT3B	201595	genome.wustl.edu	37	3	31661216	31661216	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:31661216A>G	ENST00000295770.2	+	9	1430	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	STT3B_ENST00000453168.1_Intron	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	407					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGAGCATCAACCTACGACTT	0.348																																						dbGAP											0													227.0	194.0	205.0					3																	31661216		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1221A>G	3.37:g.31661216A>G			Q96JZ4|Q96KY7	Silent	SNP	pfam_Oligo_trans_STT3	p.Q407	ENST00000295770.2	37	c.1221	CCDS2650.1	3																																																																																			STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.348	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	255	0.00	0	A	NM_178862		31661216	31661216	+1	no_errors	ENST00000295770	ensembl	human	known	69_37n	silent	85	50.58	87	SNP	0.997	G
STXBP3	6814	genome.wustl.edu	37	1	109301146	109301146	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:109301146C>G	ENST00000370008.3	+	5	323	c.273C>G	c.(271-273)ttC>ttG	p.F91L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	91	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TAGATTGTTTCTTACATGATT	0.239																																						dbGAP											0													44.0	49.0	48.0					1																	109301146		2193	4279	6472	-	-	-	SO:0001583	missense	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.273C>G	1.37:g.109301146C>G	ENSP00000359025:p.Phe91Leu		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.F91L	ENST00000370008.3	37	c.273	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	C	2.765	-0.256911	0.05829	.	.	ENSG00000116266	ENST00000370008	T	0.72835	-0.69	5.42	3.16	0.36331	.	0.105884	0.64402	D	0.000003	T	0.13586	0.0329	N	0.02286	-0.61	0.36683	D	0.879142	B	0.15719	0.014	B	0.22152	0.038	T	0.39901	-0.9591	10	0.02654	T	1	-14.8712	0.2401	0.00191	0.2258:0.1642:0.2287:0.3813	.	91	O00186	STXB3_HUMAN	L	91	ENSP00000359025:F91L	ENSP00000359025:F91L	F	+	3	2	STXBP3	109102669	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.008000	0.29872	1.072000	0.40860	0.467000	0.42956	TTC	STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.239	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	54	0.00	0	C	NM_007269		109301146	109301146	+1	no_errors	ENST00000370008	ensembl	human	known	69_37n	missense	21	60.38	32	SNP	0.999	G
SYBU	55638	genome.wustl.edu	37	8	110655102	110655102	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:110655102C>G	ENST00000422135.1	-	3	599	c.84G>C	c.(82-84)ttG>ttC	p.L28F	SYBU_ENST00000424158.2_Missense_Mutation_p.L33F|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.L28F|SYBU_ENST00000408908.2_Missense_Mutation_p.L28F|SYBU_ENST00000433638.1_Missense_Mutation_p.L28F|SYBU_ENST00000419099.1_Missense_Mutation_p.L27F|SYBU_ENST00000533171.1_Missense_Mutation_p.L28F|RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000399066.3_Missense_Mutation_p.L25F|SYBU_ENST00000533895.1_Missense_Mutation_p.L27F|SYBU_ENST00000440310.1_Missense_Mutation_p.L28F|SYBU_ENST00000528647.1_Missense_Mutation_p.L27F|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000446070.2_Missense_Mutation_p.L27F|SYBU_ENST00000528331.1_Intron	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	28	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCCGAAGAATCAACCGGGGAA	0.493																																						dbGAP											0													112.0	115.0	114.0					8																	110655102		1909	4128	6037	-	-	-	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.84G>C	8.37:g.110655102C>G	ENSP00000407118:p.Leu28Phe		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.L28F	ENST00000422135.1	37	c.84	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897654	0.72639	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184;ENST00000528716;ENST00000526302;ENST00000534578;ENST00000527600	.	.	.	6.04	6.04	0.98038	.	0.136262	0.51477	D	0.000089	T	0.77068	0.4076	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74827	-0.3532	9	0.46703	T	0.11	-15.9726	18.0887	0.89466	0.0:1.0:0.0:0.0	.	27;28;25	Q9NX95-3;Q9NX95;Q9NX95-4	.;SYBU_HUMAN;.	F	27;33;25;27;28;27;28;27;28;28;28;28;27;27;28;28;27;28;28;28;28	.	ENSP00000276646:L28F	L	-	3	2	SYBU	110724278	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	3.848000	0.55903	2.873000	0.98535	0.563000	0.77884	TTG	SYBU	-	NULL	ENSG00000147642		0.493	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	79	0.00	0	C	NM_017786		110655102	110655102	-1	no_errors	ENST00000276646	ensembl	human	known	69_37n	missense	10	69.70	23	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64619358	64619358	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:64619358G>A	ENST00000344113.4	+	85	15928	c.15716G>A	c.(15715-15717)gGg>gAg	p.G5239E	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.G1873E|SYNE2_ENST00000357395.3_Missense_Mutation_p.G1624E|SYNE2_ENST00000554584.1_Missense_Mutation_p.G5156E|SYNE2_ENST00000358025.3_Missense_Mutation_p.G5239E|SYNE2_ENST00000394768.2_Missense_Mutation_p.G1624E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5239					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGGAGAGTGGGGCAGTGCCA	0.373																																						dbGAP											0													113.0	107.0	109.0					14																	64619358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15716G>A	14.37:g.64619358G>A	ENSP00000341781:p.Gly5239Glu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.G5239E	ENST00000344113.4	37	c.15716	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602866	0.28534	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.49720	0.77;4.05;1.45;1.45;4.1;4.05	5.94	5.05	0.67936	.	0.124942	0.36932	N	0.002331	T	0.49881	0.1583	M	0.68317	2.08	0.80722	D	1	P;B;B;P	0.36789	0.57;0.082;0.374;0.48	B;B;B;B	0.42522	0.39;0.058;0.119;0.299	T	0.43294	-0.9400	10	0.16896	T	0.51	.	12.9691	0.58503	0.0754:0.0:0.9246:0.0	.	1624;5156;5239;5239	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	E	5239;1624;5239;5156;5162;1873;1624	ENSP00000350719:G5239E;ENSP00000349969:G1624E;ENSP00000341781:G5239E;ENSP00000452570:G5156E;ENSP00000450831:G1873E;ENSP00000378249:G1624E	ENSP00000261678:G5162E	G	+	2	0	SYNE2	63689111	0.505000	0.26131	0.703000	0.30354	0.573000	0.36030	2.587000	0.46128	1.505000	0.48720	0.655000	0.94253	GGG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	79	0.00	0	G	NM_182914		64619358	64619358	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	63	43.75	49	SNP	0.927	A
SYNPO	11346	genome.wustl.edu	37	5	150028481	150028481	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:150028481C>T	ENST00000394243.1	+	3	1750	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	SYNPO_ENST00000522122.1_Missense_Mutation_p.A459V|SYNPO_ENST00000519664.1_Missense_Mutation_p.A215V|SYNPO_ENST00000307662.4_Missense_Mutation_p.A215V	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	459					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.A215V(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGCAGCTGCCACCACGCCC	0.597																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											119.0	122.0	121.0					5																	150028481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1376C>T	5.37:g.150028481C>T	ENSP00000377789:p.Ala459Val		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.A459V	ENST00000394243.1	37	c.1376	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	C	4.652	0.121282	0.08881	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24151	1.89;1.89;1.87	5.43	1.44	0.22558	.	1.264960	0.05341	N	0.530121	T	0.12603	0.0306	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.29610	-1.0006	10	0.25751	T	0.34	-1.9215	1.1919	0.01867	0.1682:0.4377:0.1858:0.2083	.	215;459	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	V	459;459;215;215	ENSP00000377789:A459V;ENSP00000428378:A459V;ENSP00000429268:A215V	ENSP00000302139:A215V	A	+	2	0	SYNPO	150008674	0.000000	0.05858	0.579000	0.28588	0.428000	0.31595	-0.249000	0.08842	0.645000	0.30675	0.561000	0.74099	GCC	SYNPO	-	NULL	ENSG00000171992		0.597	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	62	0.00	0	C	NM_007286		150028481	150028481	+1	no_errors	ENST00000394243	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.000	T
SYS1	90196	genome.wustl.edu	37	20	43992240	43992240	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:43992240G>C	ENST00000243918.5	+	2	360	c.69G>C	c.(67-69)caG>caC	p.Q23H	SYS1_ENST00000426004.1_Missense_Mutation_p.Q23H|SYS1_ENST00000372727.1_Missense_Mutation_p.Q23H|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000414310.1_Missense_Mutation_p.Q2H|SYS1-DBNDD2_ENST00000452133.1_Missense_Mutation_p.Q23H	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein	23					protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCCTCATGCAGACCGTGTATT	0.662																																						dbGAP											0													43.0	28.0	33.0					20																	43992240		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.69G>C	20.37:g.43992240G>C	ENSP00000243918:p.Gln23His		C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	Missense_Mutation	SNP	pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1	p.Q23H	ENST00000243918.5	37	c.69	CCDS13351.1	20	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138035	0.56936	.	.	ENSG00000204070	ENST00000372727;ENST00000414310;ENST00000243918;ENST00000426004;ENST00000453003	.	.	.	5.55	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.90542	3.125	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.82566	-0.0393	9	0.87932	D	0	.	9.5188	0.39122	0.1614:0.0:0.8386:0.0	.	23	Q8N2H4	SYS1_HUMAN	H	23;2;23;23;23	.	ENSP00000392522:Q23H	Q	+	3	2	SYS1	43425654	1.000000	0.71417	0.996000	0.52242	0.226000	0.24999	2.377000	0.44300	1.336000	0.45506	-0.145000	0.13849	CAG	SYS1	-	pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1	ENSG00000204070		0.662	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYS1	HGNC	protein_coding	OTTHUMT00000079453.2	53	0.00	0	G	NM_033542		43992240	43992240	+1	no_errors	ENST00000243918	ensembl	human	known	69_37n	missense	19	42.42	14	SNP	0.996	C
SYT17	51760	genome.wustl.edu	37	16	19195030	19195030	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:19195030T>C	ENST00000355377.2	+	5	910	c.512T>C	c.(511-513)gTg>gCg	p.V171A	SYT17_ENST00000568115.1_Missense_Mutation_p.V110A|SYT17_ENST00000562034.1_Missense_Mutation_p.V110A|SYT17_ENST00000562711.2_Missense_Mutation_p.V167A	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	171					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGCGACGATGTGGACTCTCTG	0.572																																						dbGAP											0													101.0	80.0	87.0					16																	19195030		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.512T>C	16.37:g.19195030T>C	ENSP00000347538:p.Val171Ala		O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.V171A	ENST00000355377.2	37	c.512	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	t	13.12	2.142735	0.37825	.	.	ENSG00000103528	ENST00000355377	T	0.17054	2.3	5.51	5.51	0.81932	.	0.254082	0.31092	N	0.008262	T	0.11836	0.0288	N	0.24115	0.695	0.80722	D	1	B;B	0.24483	0.043;0.104	B;B	0.23852	0.016;0.049	T	0.06552	-1.0820	10	0.07325	T	0.83	.	15.6205	0.76802	0.0:0.0:0.0:1.0	.	171;110	Q9BSW7;B4DJB2	SYT17_HUMAN;.	A	171	ENSP00000347538:V171A	ENSP00000347538:V171A	V	+	2	0	SYT17	19102531	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	3.815000	0.55651	2.081000	0.62600	0.454000	0.30748	GTG	SYT17	-	NULL	ENSG00000103528		0.572	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	45	0.00	0	T	NM_016524		19195030	19195030	+1	no_errors	ENST00000355377	ensembl	human	known	69_37n	missense	34	38.18	21	SNP	1.000	C
TAF1L	138474	genome.wustl.edu	37	9	32632013	32632013	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:32632013T>A	ENST00000242310.4	-	1	3654	c.3565A>T	c.(3565-3567)Aca>Tca	p.T1189S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1189					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTCGAAATGTGCGATAAATC	0.463																																						dbGAP											0													211.0	169.0	183.0					9																	32632013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3565A>T	9.37:g.32632013T>A	ENSP00000418379:p.Thr1189Ser		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T1189S	ENST00000242310.4	37	c.3565	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924771	0.52759	.	.	ENSG00000122728	ENST00000242310	T	0.17528	2.27	0.479	0.479	0.16796	.	0.045861	0.85682	D	0.000000	T	0.16257	0.0391	M	0.64997	1.995	0.53005	D	0.999961	B	0.22080	0.064	B	0.29440	0.102	T	0.04915	-1.0918	10	0.45353	T	0.12	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1189	Q8IZX4	TAF1L_HUMAN	S	1189	ENSP00000418379:T1189S	ENSP00000418379:T1189S	T	-	1	0	TAF1L	32622013	1.000000	0.71417	0.997000	0.53966	0.775000	0.43874	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	ACA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	164	0.00	0	T			32632013	32632013	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	125	28.16	49	SNP	1.000	A
TAS2R1	50834	genome.wustl.edu	37	5	9629676	9629676	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:9629676T>A	ENST00000382492.2	-	1	787	c.469A>T	c.(469-471)Agg>Tgg	p.R157W	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	157					chemosensory behavior (GO:0007635)|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)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAAATTTCCTTAGGAAGTAT	0.393																																						dbGAP											0													72.0	80.0	77.0					5																	9629676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.469A>T	5.37:g.9629676T>A	ENSP00000371932:p.Arg157Trp		Q646G8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R157W	ENST00000382492.2	37	c.469	CCDS3876.1	5	.	.	.	.	.	.	.	.	.	.	T	9.631	1.136448	0.21123	.	.	ENSG00000169777	ENST00000382492	T	0.37058	1.22	5.33	-10.7	0.00240	.	9.792300	0.00166	N	0.000000	T	0.19087	0.0458	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.16247	-1.0409	9	.	.	.	.	1.9826	0.03429	0.1639:0.0907:0.2813:0.4641	.	157	Q9NYW7	TA2R1_HUMAN	W	157	ENSP00000371932:R157W	.	R	-	1	2	TAS2R1	9682676	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.660000	0.01974	-3.751000	0.00111	-0.899000	0.02877	AGG	TAS2R1	-	pfam_TAS2_rcpt	ENSG00000169777		0.393	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	51	0.00	0	T			9629676	9629676	-1	no_errors	ENST00000382492	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	0.000	A
TBC1D8B	54885	genome.wustl.edu	37	X	106065207	106065207	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:106065207G>A	ENST00000357242.5	+	4	535	c.361G>A	c.(361-363)Gga>Aga	p.G121R	TBC1D8B_ENST00000481617.2_Splice_Site_p.G121R|TBC1D8B_ENST00000276175.3_Splice_Site_p.G121R|TBC1D8B_ENST00000310452.2_Splice_Site_p.G121R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	121							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCTCCTTTAGGGATTAATTGC	0.318																																						dbGAP											0													43.0	43.0	43.0					X																	106065207		2198	4293	6491	-	-	-	SO:0001630	splice_region_variant	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.361-1G>A	X.37:g.106065207G>A			B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.G121R	ENST00000357242.5	37	c.361	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655969	0.88056	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.61	5.61	0.85477	.	0.118224	0.56097	D	0.000023	T	0.50650	0.1628	M	0.73217	2.22	0.80722	D	1	D;D;D	0.76494	0.996;0.992;0.999	D;D;D	0.69824	0.941;0.966;0.928	T	0.47661	-0.9100	9	.	.	.	-6.3127	17.0839	0.86605	0.0:0.0:1.0:0.0	.	121;121;121	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	R	121	ENSP00000349781:G121R;ENSP00000310675:G121R;ENSP00000421375:G121R;ENSP00000276175:G121R	.	G	+	1	0	TBC1D8B	105951863	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.828000	0.99408	2.349000	0.79799	0.594000	0.82650	GGA	TBC1D8B	-	NULL	ENSG00000133138		0.318	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	48	0.00	0	G	NM_017752	Missense_Mutation	106065207	106065207	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	1.000	A
TBR1	10716	genome.wustl.edu	37	2	162273201	162273201	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:162273201C>T	ENST00000389554.3	+	1	597	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	94					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTCTGAGCTTCGTCACAGTTT	0.557																																						dbGAP											0													113.0	121.0	118.0					2																	162273201		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.280C>T	2.37:g.162273201C>T	ENSP00000374205:p.Arg94Cys		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R94C	ENST00000389554.3	37	c.280	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814235	0.50527	.	.	ENSG00000136535	ENST00000389554	D	0.93906	-3.31	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96024	0.9011	10	0.87932	D	0	.	17.8745	0.88821	0.0:1.0:0.0:0.0	.	94	Q16650	TBR1_HUMAN	C	94	ENSP00000374205:R94C	ENSP00000374205:R94C	R	+	1	0	TBR1	161981447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.803000	0.96430	0.655000	0.94253	CGT	TBR1	-	NULL	ENSG00000136535		0.557	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	33	0.00	0	C	NM_006593		162273201	162273201	+1	no_errors	ENST00000389554	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	T
TBR1	10716	genome.wustl.edu	37	2	162274263	162274263	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:162274263A>T	ENST00000389554.3	+	2	1086	c.769A>T	c.(769-771)Att>Ttt	p.I257F	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	257					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TGTGGATGTGATTTTGGCGGA	0.448																																						dbGAP											0													106.0	106.0	106.0					2																	162274263		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.769A>T	2.37:g.162274263A>T	ENSP00000374205:p.Ile257Phe		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.I257F	ENST00000389554.3	37	c.769	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109062	0.77096	.	.	ENSG00000136535	ENST00000389554	T	0.80304	-1.36	5.64	4.5	0.54988	p53-like transcription factor, DNA-binding (1);	0.105257	0.64402	D	0.000009	D	0.83115	0.5184	L	0.52011	1.625	0.80722	D	1	D	0.65815	0.995	P	0.59171	0.853	D	0.84444	0.0584	10	0.87932	D	0	.	10.0267	0.42076	0.9206:0.0:0.0794:0.0	.	257	Q16650	TBR1_HUMAN	F	257	ENSP00000374205:I257F	ENSP00000374205:I257F	I	+	1	0	TBR1	161982509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.590000	0.61013	2.138000	0.66242	0.533000	0.62120	ATT	TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000136535		0.448	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	162	0.00	0	A	NM_006593		162274263	162274263	+1	no_errors	ENST00000389554	ensembl	human	known	69_37n	missense	150	28.10	59	SNP	1.000	T
TCERG1	10915	genome.wustl.edu	37	5	145886756	145886756	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:145886756G>T	ENST00000296702.5	+	19	2934	c.2896G>T	c.(2896-2898)Gat>Tat	p.D966Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D945Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	966	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAACTTCTGGATGAAACTTC	0.323																																						dbGAP											0													74.0	79.0	77.0					5																	145886756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2896G>T	5.37:g.145886756G>T	ENSP00000296702:p.Asp966Tyr		Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.D966Y	ENST00000296702.5	37	c.2896	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136621	0.77662	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.32753	1.44;1.44	5.6	5.6	0.85130	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.988;0.989	T	0.64732	-0.6338	10	0.87932	D	0	-16.8113	19.6137	0.95619	0.0:0.0:1.0:0.0	.	945;966	O14776-2;O14776	.;TCRG1_HUMAN	Y	966;945	ENSP00000296702:D966Y;ENSP00000377943:D945Y	ENSP00000296702:D966Y	D	+	1	0	TCERG1	145866949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.804000	0.99143	2.636000	0.89361	0.591000	0.81541	GAT	TCERG1	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain	ENSG00000113649		0.323	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	62	0.00	0	G	NM_001040006		145886756	145886756	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	missense	52	30.67	23	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152083851	152083853	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:152083851_152083853delCTC	ENST00000368804.1	-	2	1839_1841	c.1840_1842delGAG	c.(1840-1842)gagdel	p.E614del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	614	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCGCGCCTCTCCTCCTGCTCG	0.675																																						dbGAP											0										16,3778		1,14,1882						0.4	0.0		dbSNP_126	42	47,7901		5,37,3932	no	coding	TCHH	NM_007113.2		6,51,5814	A1A1,A1R,RR		0.5913,0.4217,0.5365				63,11679				-	-	-	SO:0001651	inframe_deletion	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1840_1842delGAG	1.37:g.152083854_152083856delCTC	ENSP00000357794:p.Glu614del		Q5VUI3	In_Frame_Del	DEL	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E614in_frame_del	ENST00000368804.1	37	c.1842_1840	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.675	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	70	0.00	0	CTC	NM_007113		152083851	152083853	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	in_frame_del	66	22.35	19	DEL	0.000:0.000:0.000	-
TEC	7006	genome.wustl.edu	37	4	48152946	48152946	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:48152946C>T	ENST00000381501.3	-	10	963	c.806G>A	c.(805-807)gGt>gAt	p.G269D	TEC_ENST00000511471.2_5'UTR|Y_RNA_ENST00000365144.1_RNA	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	269	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TACCATAAAACCACCTTCTTT	0.328																																						dbGAP											0													84.0	91.0	89.0					4																	48152946		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.806G>A	4.37:g.48152946C>T	ENSP00000370912:p.Gly269Asp		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.G269D	ENST00000381501.3	37	c.806	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068754	0.76301	.	.	ENSG00000135605	ENST00000381501	D	0.87729	-2.29	5.65	4.8	0.61643	SH2 motif (5);	0.107096	0.64402	D	0.000007	D	0.84266	0.5434	N	0.20766	0.605	0.54753	D	0.999983	B	0.32753	0.383	B	0.42959	0.403	D	0.84940	0.0865	10	0.87932	D	0	.	16.557	0.84487	0.0:0.8692:0.1308:0.0	.	269	P42680	TEC_HUMAN	D	269	ENSP00000370912:G269D	ENSP00000370912:G269D	G	-	2	0	TEC	47847703	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	2.412000	0.44609	1.365000	0.46057	0.491000	0.48974	GGT	TEC	-	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	ENSG00000135605		0.328	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	HGNC	protein_coding	OTTHUMT00000250492.3	80	0.00	0	C			48152946	48152946	-1	no_errors	ENST00000381501	ensembl	human	known	69_37n	missense	29	66.67	58	SNP	1.000	T
TESPA1	9840	genome.wustl.edu	37	12	55356217	55356217	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:55356217C>T	ENST00000449076.1	-	9	1597	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	TESPA1_ENST00000532804.1_Missense_Mutation_p.E351K|TESPA1_ENST00000316577.8_Missense_Mutation_p.E489K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E351K|TESPA1_ENST00000524622.1_Missense_Mutation_p.E351K|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	489					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CCACTTACCTCCTCCAAGTCA	0.507																																						dbGAP											0													156.0	156.0	156.0					12																	55356217		1932	4139	6071	-	-	-	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1465G>A	12.37:g.55356217C>T	ENSP00000400892:p.Glu489Lys		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.E489K	ENST00000449076.1	37	c.1465	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190254	0.38707	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.55930	0.49;0.49;0.54;0.54;0.49	4.7	-0.328	0.12690	.	0.779663	0.11298	N	0.578464	T	0.35508	0.0934	L	0.29908	0.895	0.23515	N	0.997511	B	0.13594	0.008	B	0.11329	0.006	T	0.30621	-0.9972	10	0.87932	D	0	-2.464	4.3982	0.11374	0.0:0.4907:0.1615:0.3479	.	489	A2RU30	K0748_HUMAN	K	351;89;351;489;489;351	ENSP00000435622:E351K;ENSP00000432030:E351K;ENSP00000400892:E489K;ENSP00000312679:E489K;ENSP00000433098:E351K	ENSP00000312679:E489K	E	-	1	0	KIAA0748	53642484	0.997000	0.39634	0.966000	0.40874	0.075000	0.17131	0.192000	0.17096	-0.055000	0.13244	-0.136000	0.14681	GAG	TESPA1	-	NULL	ENSG00000135426		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	140	0.00	0	C	NM_001098815		55356217	55356217	-1	no_errors	ENST00000316577	ensembl	human	known	69_37n	missense	65	36.27	37	SNP	0.968	T
TEX30	93081	genome.wustl.edu	37	13	103421738	103421738	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:103421738G>A	ENST00000376032.4	-	3	358	c.169C>T	c.(169-171)Cat>Tat	p.H57Y	TEX30_ENST00000487260.1_5'UTR|TEX30_ENST00000376027.1_Missense_Mutation_p.H57Y|TEX30_ENST00000376019.1_Missense_Mutation_p.H16Y|TEX30_ENST00000376029.3_Missense_Mutation_p.H57Y|TEX30_ENST00000376022.1_Missense_Mutation_p.H16Y|TEX30_ENST00000376021.4_Missense_Mutation_p.H16Y	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	57										lung(1)|urinary_tract(1)	2						AAAAACCCATGAGATGCAAGA	0.343																																						dbGAP											0													69.0	63.0	65.0					13																	103421738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.169C>T	13.37:g.103421738G>A	ENSP00000365200:p.His57Tyr		Q5JUR8|Q96KZ8	Missense_Mutation	SNP	pfam_Dienelactn_hydro	p.H57Y	ENST00000376032.4	37	c.169	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093124	0.36952	.	.	ENSG00000151287	ENST00000376027;ENST00000376019;ENST00000376022;ENST00000376021;ENST00000376032;ENST00000376029	T;T;T	0.22539	1.95;1.95;1.95	5.68	3.84	0.44239	.	0.355993	0.32190	N	0.006447	T	0.16769	0.0403	L	0.36672	1.1	0.39578	D	0.969398	P	0.39601	0.68	B	0.35607	0.206	T	0.07908	-1.0748	10	0.23891	T	0.37	-10.7959	15.5277	0.75925	0.0:0.0:0.7504:0.2496	.	57	Q5JUR7	CM027_HUMAN	Y	57;16;16;16;57;57	ENSP00000365187:H16Y;ENSP00000365189:H16Y;ENSP00000365200:H57Y	ENSP00000365187:H16Y	H	-	1	0	C13orf27	102219739	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	2.638000	0.46562	1.521000	0.48983	0.563000	0.77884	CAT	TEX30	-	NULL	ENSG00000151287		0.343	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	HGNC	protein_coding	OTTHUMT00000045691.4	44	0.00	0	G	NM_138779		103421738	103421738	-1	no_errors	ENST00000376032	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	1.000	A
TFEB	7942	genome.wustl.edu	37	6	41652769	41652769	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:41652769C>T	ENST00000230323.4	-	10	1300	c.999G>A	c.(997-999)ccG>ccA	p.P333P	TFEB_ENST00000420312.1_Silent_p.P248P|TFEB_ENST00000403298.4_Silent_p.P333P|TFEB_ENST00000373033.1_Silent_p.P333P|TFEB_ENST00000358871.2_Silent_p.P347P|AL035588.1_ENST00000597468.1_5'Flank	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	333					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCATGCCGGACGGGGAGGTGG	0.667			T	ALPHA	renal (childhood epithelioid)																																	dbGAP		Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	0													14.0	13.0	13.0					6																	41652769		2182	4280	6462	-	-	-	SO:0001819	synonymous_variant	0			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.999G>A	6.37:g.41652769C>T			Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P333	ENST00000230323.4	37	c.999	CCDS4858.1	6																																																																																			TFEB	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000112561		0.667	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFEB	HGNC	protein_coding	OTTHUMT00000040522.3	40	0.00	0	C			41652769	41652769	-1	no_errors	ENST00000230323	ensembl	human	known	69_37n	silent	7	55.56	10	SNP	0.152	T
TGM7	116179	genome.wustl.edu	37	15	43584976	43584976	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:43584976G>C	ENST00000452443.2	-	3	374	c.370C>G	c.(370-372)Cag>Gag	p.Q124E		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	124					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTTGGCCCTGAGAGATCTCT	0.468																																						dbGAP											0													126.0	138.0	134.0					15																	43584976		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.370C>G	15.37:g.43584976G>C	ENSP00000389466:p.Gln124Glu			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Q124E	ENST00000452443.2	37	c.370	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707413	0.30322	.	.	ENSG00000159495	ENST00000452443	T	0.81247	-1.47	5.32	3.36	0.38483	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.604741	0.13373	U	0.392719	T	0.72423	0.3458	L	0.51422	1.61	0.09310	N	1	B	0.30563	0.285	B	0.31946	0.138	T	0.61426	-0.7065	10	0.35671	T	0.21	-3.7588	4.9849	0.14185	0.1728:0.1861:0.6411:0.0	.	124	Q96PF1	TGM7_HUMAN	E	124	ENSP00000389466:Q124E	ENSP00000389466:Q124E	Q	-	1	0	TGM7	41372268	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.568000	0.23623	1.331000	0.45412	0.561000	0.74099	CAG	TGM7	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000159495		0.468	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	99	0.00	0	G	NM_052955		43584976	43584976	-1	no_errors	ENST00000452443	ensembl	human	known	69_37n	missense	29	50.00	29	SNP	0.001	C
THADA	63892	genome.wustl.edu	37	2	43802047	43802047	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:43802047G>A	ENST00000405006.4	-	11	1508	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	THADA_ENST00000404790.1_Missense_Mutation_p.S386L|THADA_ENST00000402360.2_Missense_Mutation_p.S386L|THADA_ENST00000403856.1_Missense_Mutation_p.S386L|THADA_ENST00000415080.2_Missense_Mutation_p.S96L|THADA_ENST00000330266.7_Missense_Mutation_p.S96L|THADA_ENST00000405975.2_Missense_Mutation_p.S386L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	386										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACTATACTTGAATTCCCATT	0.418																																						dbGAP											0													147.0	137.0	140.0					2																	43802047		1846	4087	5933	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1157C>T	2.37:g.43802047G>A	ENSP00000385995:p.Ser386Leu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.S386L	ENST00000405006.4	37	c.1157	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777608	0.90195	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65732	1.49;1.49;1.49;1.49;-0.17;-0.17;1.49	5.63	5.63	0.86233	.	0.073354	0.56097	D	0.000023	T	0.75759	0.3893	M	0.65498	2.005	0.46011	D	0.998811	D;P;D;D;P	0.57571	0.971;0.649;0.98;0.967;0.518	P;B;P;P;B	0.57324	0.713;0.439;0.818;0.662;0.255	T	0.77800	-0.2452	10	0.87932	D	0	.	19.6811	0.95964	0.0:0.0:1.0:0.0	.	386;386;386;96;386	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	L	96;386;386;96;386;386;386;386	ENSP00000331105:S96L;ENSP00000386088:S386L;ENSP00000416048:S96L;ENSP00000385995:S386L;ENSP00000385441:S386L;ENSP00000384266:S386L;ENSP00000385469:S386L	ENSP00000331105:S96L	S	-	2	0	THADA	43655551	1.000000	0.71417	0.572000	0.28498	0.963000	0.63663	9.046000	0.93817	2.658000	0.90341	0.561000	0.74099	TCA	THADA	-	NULL	ENSG00000115970		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	109	0.00	0	G	NM_022065		43802047	43802047	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	107	31.85	50	SNP	0.959	A
THSD7A	221981	genome.wustl.edu	37	7	11464450	11464450	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:11464450C>T	ENST00000423059.4	-	16	3507	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1086	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGACAACCTCATACACCTGA	0.493										HNSCC(18;0.044)																												dbGAP											0													106.0	100.0	102.0					7																	11464450		2048	4201	6249	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3256G>A	7.37:g.11464450C>T	ENSP00000406482:p.Glu1086Lys			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E1086K	ENST00000423059.4	37	c.3256	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.646364	0.96704	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60672	0.17	5.85	5.85	0.93711	.	0.096039	0.64402	D	0.000001	T	0.71813	0.3384	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.64424	-0.6411	10	0.25106	T	0.35	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	1086	Q9UPZ6	THS7A_HUMAN	K	1086	ENSP00000406482:E1086K	ENSP00000262042:E1086K	E	-	1	0	THSD7A	11430975	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.247000	0.78257	2.767000	0.95098	0.655000	0.94253	GAG	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	113	0.00	0	C	XM_928187.2		11464450	11464450	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	88	32.82	43	SNP	1.000	T
THTPA	79178	genome.wustl.edu	37	14	24026073	24026073	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:24026073G>A	ENST00000288014.6	+	1	843	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	THTPA_ENST00000554789.1_Missense_Mutation_p.R36Q|THTPA_ENST00000556015.1_Missense_Mutation_p.R36Q|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.R36Q|THTPA_ENST00000554970.1_Missense_Mutation_p.R36Q|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	36	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		GTCACCTTCCGAGACACCTAC	0.607																																						dbGAP											0													70.0	54.0	59.0					14																	24026073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.107G>A	14.37:g.24026073G>A	ENSP00000288014:p.Arg36Gln		D3DS50|G3V4J3	Missense_Mutation	SNP	pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	p.R36Q	ENST00000288014.6	37	c.107	CCDS32053.1	14	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500533	0.64298	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.91	5.02	0.67125	CYTH domain (2);CYTH-like domain (1);	0.378661	0.26963	N	0.021610	T	0.32406	0.0828	L	0.41824	1.3	0.38137	D	0.938325	P;P	0.52061	0.597;0.95	B;B	0.35312	0.063;0.2	T	0.24657	-1.0154	10	0.13853	T	0.58	-0.9197	13.1541	0.59508	0.0771:0.0:0.9229:0.0	.	36;36	G3V4J3;Q9BU02	.;THTPA_HUMAN	Q	36	ENSP00000384580:R36Q;ENSP00000288014:R36Q;ENSP00000452281:R36Q;ENSP00000451835:R36Q;ENSP00000452465:R36Q;ENSP00000450459:R36Q	ENSP00000288014:R36Q	R	+	2	0	THTPA	23095913	0.715000	0.27946	0.998000	0.56505	0.988000	0.76386	1.157000	0.31724	1.500000	0.48636	0.655000	0.94253	CGA	THTPA	-	pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	ENSG00000259431		0.607	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THTPA	HGNC	protein_coding	OTTHUMT00000413800.2	99	0.00	0	G			24026073	24026073	+1	no_errors	ENST00000288014	ensembl	human	known	69_37n	missense	43	43.42	33	SNP	0.987	A
THTPA	79178	genome.wustl.edu	37	14	24026219	24026219	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:24026219G>A	ENST00000288014.6	+	1	989	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	THTPA_ENST00000554789.1_Missense_Mutation_p.E85K|THTPA_ENST00000556015.1_Missense_Mutation_p.E85K|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.E85K|THTPA_ENST00000554970.1_Missense_Mutation_p.E85K|RP11-66N24.4_ENST00000556354.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	85	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		ACTCACAGCGGAACCTACAAT	0.602																																						dbGAP											0													101.0	90.0	94.0					14																	24026219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.253G>A	14.37:g.24026219G>A	ENSP00000288014:p.Glu85Lys		D3DS50|G3V4J3	Missense_Mutation	SNP	pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	p.E85K	ENST00000288014.6	37	c.253	CCDS32053.1	14	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374114	0.42105	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.38	5.38	0.77491	CYTH domain (2);CYTH-like domain (1);	0.245056	0.41823	D	0.000804	T	0.43010	0.1228	L	0.47016	1.485	0.21627	N	0.999616	P;P	0.52577	0.873;0.954	P;P	0.49276	0.523;0.605	T	0.39941	-0.9589	10	0.08599	T	0.76	-6.6583	16.6817	0.85294	0.0:0.0:1.0:0.0	.	85;85	G3V4J3;Q9BU02	.;THTPA_HUMAN	K	85	ENSP00000384580:E85K;ENSP00000288014:E85K;ENSP00000452281:E85K;ENSP00000451835:E85K;ENSP00000452465:E85K;ENSP00000450459:E85K	ENSP00000288014:E85K	E	+	1	0	THTPA	23096059	0.072000	0.21174	0.298000	0.25002	0.963000	0.63663	1.506000	0.35747	2.793000	0.96121	0.655000	0.94253	GAA	THTPA	-	pfam_CYTH_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	ENSG00000259431		0.602	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THTPA	HGNC	protein_coding	OTTHUMT00000413800.2	141	0.00	0	G			24026219	24026219	+1	no_errors	ENST00000288014	ensembl	human	known	69_37n	missense	50	33.33	25	SNP	0.224	A
TIAM1	7074	genome.wustl.edu	37	21	32639061	32639061	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:32639061G>A	ENST00000286827.3	-	5	699	c.228C>T	c.(226-228)ttC>ttT	p.F76F	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.F76F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	76					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CATCTTGGGAGAAGGGCTCCA	0.592																																						dbGAP											0													60.0	62.0	61.0					21																	32639061		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.228C>T	21.37:g.32639061G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.F76	ENST00000286827.3	37	c.228	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.592	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	40	0.00	0	G	NM_003253		32639061	32639061	-1	no_errors	ENST00000286827	ensembl	human	known	69_37n	silent	8	50.00	8	SNP	0.975	A
TIMELESS	8914	genome.wustl.edu	37	12	56816665	56816665	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:56816665C>G	ENST00000553532.1	-	19	2554	c.2404G>C	c.(2404-2406)Gag>Cag	p.E802Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E801Q|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCAGTCATCTCTCGAACCACA	0.498																																						dbGAP											0													89.0	89.0	89.0					12																	56816665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2404G>C	12.37:g.56816665C>G	ENSP00000450607:p.Glu802Gln			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E802Q	ENST00000553532.1	37	c.2404	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.066866	0.93898	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.15372	2.43;2.43	5.38	5.38	0.77491	Timeless C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.37079	-0.9721	10	0.46703	T	0.11	-22.7893	18.2775	0.90087	0.0:1.0:0.0:0.0	.	802	Q9UNS1	TIM_HUMAN	Q	801;802	ENSP00000229201:E801Q;ENSP00000450607:E802Q	ENSP00000229201:E802Q	E	-	1	0	TIMELESS	55102932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.279000	0.78599	2.701000	0.92244	0.591000	0.81541	GAG	TIMELESS	-	pfam_TIMELESS_C	ENSG00000111602		0.498	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	57	0.00	0	C	NM_003920		56816665	56816665	-1	no_errors	ENST00000553532	ensembl	human	known	69_37n	missense	53	25.35	18	SNP	1.000	G
TLN2	83660	genome.wustl.edu	37	15	62948251	62948251	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:62948251G>A	ENST00000561311.1	+	7	856	c.626G>A	c.(625-627)aGa>aAa	p.R209K	TLN2_ENST00000306829.6_Missense_Mutation_p.R209K			Q9Y4G6	TLN2_HUMAN	talin 2	209	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTAGATTCGAGAGACCCCGTG	0.453																																						dbGAP											0													115.0	97.0	103.0					15																	62948251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.626G>A	15.37:g.62948251G>A	ENSP00000453508:p.Arg209Lys		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.R209K	ENST00000561311.1	37	c.626	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533393	0.85812	.	.	ENSG00000171914	ENST00000306829	T	0.77098	-1.07	5.47	5.47	0.80525	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.85444	0.5698	L	0.50919	1.6	0.58432	D	0.999999	D	0.61697	0.99	D	0.77004	0.989	D	0.84288	0.0498	10	0.44086	T	0.13	-17.702	18.6826	0.91551	0.0:0.0:1.0:0.0	.	209	Q9Y4G6	TLN2_HUMAN	K	209	ENSP00000303476:R209K	ENSP00000303476:R209K	R	+	2	0	TLN2	60735543	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	9.803000	0.99136	2.723000	0.93209	0.655000	0.94253	AGA	TLN2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000171914		0.453	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	80	0.00	0	G			62948251	62948251	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	24	51.02	25	SNP	1.000	A
TMED4	222068	genome.wustl.edu	37	7	44621710	44621710	+	Missense_Mutation	SNP	G	G	C	rs201894102		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:44621710G>C	ENST00000457408.2	-	1	148	c.96C>G	c.(94-96)ttC>ttG	p.F32L	TMED4_ENST00000481238.1_Missense_Mutation_p.F32L|TMED4_ENST00000289577.5_Missense_Mutation_p.F32L|TMED4_ENST00000444131.2_5'UTR	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	32					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGCCGATGTGGAAGTAGAGCC	0.682																																						dbGAP											0													21.0	18.0	19.0					7																	44621710		2183	4267	6450	-	-	-	SO:0001583	missense	0			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.96C>G	7.37:g.44621710G>C	ENSP00000404042:p.Phe32Leu		A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP	pfam_GOLD,pfscan_GOLD	p.F32L	ENST00000457408.2	37	c.96	CCDS5493.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464176	0.84425	.	.	ENSG00000158604	ENST00000457408;ENST00000289577;ENST00000419520;ENST00000481238	T;T;T	0.25414	1.8;1.8;1.8	5.05	1.25	0.21368	GOLD (1);	0.052140	0.85682	N	0.000000	T	0.47021	0.1423	M	0.89478	3.035	0.80722	D	1	D;P	0.62365	0.991;0.763	P;P	0.59595	0.86;0.656	T	0.46871	-0.9160	10	0.59425	D	0.04	1.9121	8.2927	0.31967	0.3336:0.0:0.6664:0.0	.	32;32	Q7Z7H5-3;Q7Z7H5	.;TMED4_HUMAN	L	32	ENSP00000404042:F32L;ENSP00000289577:F32L;ENSP00000417443:F32L	ENSP00000289577:F32L	F	-	3	2	TMED4	44588235	1.000000	0.71417	0.983000	0.44433	0.757000	0.42996	1.480000	0.35464	0.181000	0.19994	-0.672000	0.03802	TTC	TMED4	-	pfam_GOLD	ENSG00000158604		0.682	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED4	HGNC	protein_coding	OTTHUMT00000251290.1	22	0.00	0	G	NM_182547		44621710	44621710	-1	no_errors	ENST00000457408	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	C
TMEM132C	92293	genome.wustl.edu	37	12	129028546	129028546	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:129028546G>A	ENST00000435159.2	+	3	1019	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	TMEM132C_ENST00000315208.8_5'UTR	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	340						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GCTCAGACCCGTGAGCCCCGG	0.647																																						dbGAP											0													37.0	50.0	46.0					12																	129028546		692	1591	2283	-	-	-	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1019G>A	12.37:g.129028546G>A	ENSP00000410852:p.Arg340His		Q69YX8	Missense_Mutation	SNP	NULL	p.R340H	ENST00000435159.2	37	c.1019		12	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475477	0.63737	.	.	ENSG00000181234	ENST00000435159	T	0.18016	2.24	4.71	4.71	0.59529	.	.	.	.	.	T	0.18215	0.0437	L	0.29908	0.895	0.25680	N	0.98581	D	0.64830	0.994	P	0.44477	0.451	T	0.09314	-1.0680	9	0.56958	D	0.05	.	17.6508	0.88163	0.0:0.0:1.0:0.0	.	340	Q8N3T6	T132C_HUMAN	H	340	ENSP00000410852:R340H	ENSP00000410852:R340H	R	+	2	0	TMEM132C	127594499	1.000000	0.71417	0.979000	0.43373	0.819000	0.46315	5.782000	0.68973	2.316000	0.78162	0.655000	0.94253	CGT	TMEM132C	-	NULL	ENSG00000181234		0.647	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		32	0.00	0	G	XM_044062		129028546	129028546	+1	no_errors	ENST00000435159	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	A
TMEM132D	121256	genome.wustl.edu	37	12	129559341	129559341	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:129559341G>C	ENST00000422113.2	-	9	2705	c.2379C>G	c.(2377-2379)atC>atG	p.I793M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I331M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	793					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I793I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATTTAACTTTGATGTTTGCCG	0.483																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											190.0	153.0	166.0					12																	129559341		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2379C>G	12.37:g.129559341G>C	ENSP00000408581:p.Ile793Met		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.I793M	ENST00000422113.2	37	c.2379	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	6.826	0.521476	0.13005	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15372	2.43;2.43	4.2	3.28	0.37604	.	0.292295	0.31734	N	0.007160	T	0.28400	0.0702	M	0.77103	2.36	0.40880	D	0.983986	D;P	0.53151	0.958;0.842	P;P	0.51866	0.682;0.6	T	0.04991	-1.0913	9	.	.	.	-12.8351	8.0529	0.30587	0.2593:0.0:0.7407:0.0	.	793;331	Q14C87;Q14C87-2	T132D_HUMAN;.	M	331;793	ENSP00000374092:I331M;ENSP00000408581:I793M	.	I	-	3	3	TMEM132D	128125294	0.995000	0.38212	0.147000	0.22382	0.304000	0.27724	0.767000	0.26575	2.033000	0.60031	0.462000	0.41574	ATC	TMEM132D	-	NULL	ENSG00000151952		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	115	0.00	0	G	NM_133448		129559341	129559341	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	missense	128	30.81	57	SNP	0.811	C
TMEM176B	28959	genome.wustl.edu	37	7	150490276	150490276	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:150490276G>C	ENST00000447204.2	-	5	872	c.500C>G	c.(499-501)tCa>tGa	p.S167*	TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.S167*|TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.S167*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.S130*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.S167*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.S167*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	167					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACAGGGTCTGAGCGATCACA	0.507																																						dbGAP											0													162.0	134.0	143.0					7																	150490276		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.500C>G	7.37:g.150490276G>C	ENSP00000410269:p.Ser167*		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Nonsense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.S167*	ENST00000447204.2	37	c.500	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352111	0.61183	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	.	.	.	3.49	0.528	0.17089	.	3.778240	0.01902	U	0.039256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	0.0375	6.0603	0.19835	0.373:0.0:0.627:0.0	.	.	.	.	X	167;167;167;167;167;130;167	.	ENSP00000318409:S167X	S	-	2	0	TMEM176B	150121209	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.299000	0.19138	-0.023000	0.13963	0.448000	0.29417	TCA	TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	120	0.00	0	G	NM_014020		150490276	150490276	-1	no_errors	ENST00000326442	ensembl	human	known	69_37n	nonsense	92	36.11	52	SNP	0.000	C
TMEM19	55266	genome.wustl.edu	37	12	72090223	72090223	+	Silent	SNP	C	C	T	rs184726766		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:72090223C>T	ENST00000266673.5	+	3	846	c.252C>T	c.(250-252)gtC>gtT	p.V84V	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Silent_p.V84V	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	84						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGGGCTAGTCGTTGGATTTA	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		13856	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													130.0	131.0	131.0					12																	72090223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.252C>T	12.37:g.72090223C>T			B2RDL2|Q53FY3|Q9NV41	Silent	SNP	pfam_DUF92_TMEM19	p.V84	ENST00000266673.5	37	c.252	CCDS9002.1	12																																																																																			TMEM19	-	pfam_DUF92_TMEM19	ENSG00000139291		0.303	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM19	HGNC	protein_coding	OTTHUMT00000404801.1	148	0.67	1	C	NM_018279		72090223	72090223	+1	no_errors	ENST00000266673	ensembl	human	known	69_37n	silent	110	29.49	46	SNP	0.985	T
TMEM19	55266	genome.wustl.edu	37	12	72091271	72091271	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:72091271A>G	ENST00000266673.5	+	4	1188	c.594A>G	c.(592-594)aaA>aaG	p.K198K	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Silent_p.K198K	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	198						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTCTGAGTAAAAGTTCTCCAA	0.473																																						dbGAP											0													108.0	108.0	108.0					12																	72091271		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.594A>G	12.37:g.72091271A>G			B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	pfam_DUF92_TMEM19	p.K14E	ENST00000266673.5	37	c.40	CCDS9002.1	12	.	.	.	.	.	.	.	.	.	.	A	9.770	1.172510	0.21704	.	.	ENSG00000139291	ENST00000550787	.	.	.	5.94	2.09	0.27110	.	0.210315	0.49305	D	0.000142	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54063	-0.8349	6	0.51188	T	0.08	-17.4232	3.9373	0.09311	0.6079:0.112:0.0637:0.2165	.	.	.	.	E	14	.	ENSP00000448069:K14E	K	+	1	0	TMEM19	70377538	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.169000	0.42434	1.047000	0.40274	0.528000	0.53228	AAG	TMEM19	-	pfam_DUF92_TMEM19	ENSG00000139291		0.473	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM19	HGNC	protein_coding	OTTHUMT00000404801.1	88	0.00	0	A	NM_018279		72091271	72091271	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550787	ensembl	human	known	69_37n	missense	67	39.64	44	SNP	0.934	G
TMEM246	84302	genome.wustl.edu	37	9	104238342	104238342	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:104238342G>A	ENST00000374851.1	-	4	2180	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R345C|TMEM246_ENST00000374847.1_Missense_Mutation_p.R345C			Q9BRR3	TM246_HUMAN	transmembrane protein 246	345						integral component of membrane (GO:0016021)											AGGGTCCGGCGGGCCGCAGGT	0.612																																						dbGAP											0													56.0	58.0	57.0					9																	104238342		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1033C>T	9.37:g.104238342G>A	ENSP00000363984:p.Arg345Cys		Q49AQ4	Missense_Mutation	SNP	NULL	p.R345C	ENST00000374851.1	37	c.1033	CCDS6757.1	9	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864276	0.51482	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.7	5.7	0.88788	.	0.263545	0.38164	N	0.001785	T	0.48926	0.1527	L	0.36672	1.1	0.49687	D	0.99981	D	0.59767	0.986	B	0.43783	0.431	T	0.50110	-0.8866	9	0.48119	T	0.1	-23.9559	18.822	0.92100	0.0:0.0:1.0:0.0	.	345	Q9BRR3	CI125_HUMAN	C	345	.	ENSP00000363980:R345C	R	-	1	0	C9orf125	103278163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.033000	0.49743	2.700000	0.92200	0.563000	0.77884	CGC	TMEM246	-	NULL	ENSG00000165152		0.612	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	82	0.00	0	G	NM_032342		104238342	104238342	-1	no_errors	ENST00000374847	ensembl	human	known	69_37n	missense	44	36.23	25	SNP	1.000	A
TMEM50B	757	genome.wustl.edu	37	21	34839406	34839406	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:34839406C>G	ENST00000542230.2	-	3	337	c.123G>C	c.(121-123)atG>atC	p.M41I	AP000301.1_ENST00000581654.1_RNA	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	41						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CTGCATCAATCATTATCCACC	0.388																																						dbGAP											0													120.0	109.0	113.0					21																	34839406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.123G>C	21.37:g.34839406C>G	ENSP00000439768:p.Met41Ile		B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	pfam_UPF0220	p.M41I	ENST00000542230.2	37	c.123	CCDS13625.1	21	.	.	.	.	.	.	.	.	.	.	C	4.634	0.117930	0.08881	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	T;T	0.27720	1.65;1.65	5.72	5.72	0.89469	.	0.126722	0.64402	D	0.000001	T	0.15912	0.0383	N	0.03253	-0.375	0.58432	D	0.999995	B	0.06786	0.001	B	0.16289	0.015	T	0.14896	-1.0456	10	0.10377	T	0.69	-22.5883	18.6497	0.91427	0.0:1.0:0.0:0.0	.	41	P56557	TM50B_HUMAN	I	41	ENSP00000439768:M41I;ENSP00000387622:M41I	ENSP00000371390:M41I	M	-	3	0	TMEM50B	33761276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.319000	0.33655	2.703000	0.92315	0.549000	0.68633	ATG	TMEM50B	-	pfam_UPF0220	ENSG00000142188		0.388	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50B	HGNC	protein_coding	OTTHUMT00000140080.5	171	0.00	0	C			34839406	34839406	-1	no_errors	ENST00000420455	ensembl	human	known	69_37n	missense	34	62.22	56	SNP	1.000	G
TMEM52B	120939	genome.wustl.edu	37	12	10342675	10342675	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:10342675C>A	ENST00000381923.2	+	6	892	c.488C>A	c.(487-489)cCt>cAt	p.P163H	TMEM52B_ENST00000536952.1_Missense_Mutation_p.P163H|TMEM52B_ENST00000298530.3_Missense_Mutation_p.P143H			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	163						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCCCAGTACCTGAAGAAAAG	0.488																																						dbGAP											0													56.0	54.0	55.0					12																	10342675		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.488C>A	12.37:g.10342675C>A	ENSP00000371348:p.Pro163His		Q96NA7	Missense_Mutation	SNP	NULL	p.P163H	ENST00000381923.2	37	c.488		12	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122345	0.37436	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.30448	1.53;1.53;1.53	4.63	3.74	0.42951	.	0.166320	0.41938	D	0.000783	T	0.46268	0.1384	L	0.56769	1.78	0.35085	D	0.763759	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.939	T	0.57940	-0.7724	10	0.42905	T	0.14	-8.2503	10.8276	0.46643	0.0:0.9072:0.0:0.0928	.	163;143	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	H	163;143;163	ENSP00000371348:P163H;ENSP00000298530:P143H;ENSP00000446102:P163H	ENSP00000298530:P143H	P	+	2	0	C12orf59	10233942	0.977000	0.34250	0.599000	0.28851	0.086000	0.17979	2.342000	0.43992	1.299000	0.44798	0.585000	0.79938	CCT	TMEM52B	-	NULL	ENSG00000165685		0.488	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	59	0.00	0	C	NM_153022		10342675	10342675	+1	no_errors	ENST00000381923	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.849	A
TMTC3	160418	genome.wustl.edu	37	12	88566490	88566490	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:88566490A>G	ENST00000266712.6	+	8	1387	c.1167A>G	c.(1165-1167)gtA>gtG	p.V389V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	389					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GTATTTTGGTAGCCCATGGAT	0.348																																						dbGAP											0													112.0	107.0	109.0					12																	88566490		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1167A>G	12.37:g.88566490A>G			Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V389	ENST00000266712.6	37	c.1167	CCDS9032.1	12																																																																																			TMTC3	-	NULL	ENSG00000139324		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	155	0.00	0	A	NM_181783		88566490	88566490	+1	no_errors	ENST00000266712	ensembl	human	known	69_37n	silent	136	31.31	62	SNP	1.000	G
TMX3	54495	genome.wustl.edu	37	18	66354978	66354978	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:66354978G>A	ENST00000299608.2	-	10	978	c.662C>T	c.(661-663)tCa>tTa	p.S221L	TMX3_ENST00000566887.1_5'Flank	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	221					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GTTGATCCATGATGACAGATC	0.343																																						dbGAP											0													155.0	140.0	145.0					18																	66354978		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.662C>T	18.37:g.66354978G>A	ENSP00000299608:p.Ser221Leu		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.S221L	ENST00000299608.2	37	c.662	CCDS32840.1	18	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938668	0.52972	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	T	0.31510	1.49	5.69	4.81	0.61882	.	0.597033	0.18880	N	0.128588	T	0.36331	0.0963	M	0.70595	2.14	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.18398	-1.0338	10	0.52906	T	0.07	.	14.5079	0.67764	0.0:0.2791:0.7209:0.0	.	221	Q96JJ7	TMX3_HUMAN	L	221	ENSP00000299608:S221L	ENSP00000299608:S221L	S	-	2	0	TMX3	64505958	0.989000	0.36119	0.614000	0.29051	0.976000	0.68499	4.470000	0.60175	1.518000	0.48934	0.591000	0.81541	TCA	TMX3	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	ENSG00000166479		0.343	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1	91	0.00	0	G	NM_019022		66354978	66354978	-1	no_errors	ENST00000299608	ensembl	human	known	69_37n	missense	23	58.18	32	SNP	0.951	A
TNNT3	7140	genome.wustl.edu	37	11	1955029	1955030	+	In_Frame_Ins	INS	-	-	AGG			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:1955029_1955030insAGG	ENST00000397301.1	+	11	291_292	c.283_284insAGG	c.(283-285)aag>aAGGag	p.99_100insE	TNNT3_ENST00000360603.3_In_Frame_Ins_p.82_83insE|TNNT3_ENST00000381589.3_In_Frame_Ins_p.86_87insE|TNNT3_ENST00000381558.1_In_Frame_Ins_p.80_81insE|TNNT3_ENST00000278317.6_In_Frame_Ins_p.88_89insE|TNNT3_ENST00000381579.3_In_Frame_Ins_p.80_81insE|TNNT3_ENST00000446240.1_In_Frame_Ins_p.69_70insE|TNNT3_ENST00000381549.3_In_Frame_Ins_p.80_81insE|TNNT3_ENST00000381548.3_In_Frame_Ins_p.90_91insE|TNNT3_ENST00000397304.2_In_Frame_Ins_p.69_70insE|TNNT3_ENST00000381561.4_In_Frame_Ins_p.91_92insE			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	99					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGCCCGGAAGAAGGAGGAGGAG	0.604																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.293_295dupAGG	11.37:g.1955036_1955038dupAGG	ENSP00000380468:p.Glu99_Glu99dup		A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	In_Frame_Ins	INS	pfam_Troponin	p.99in_frame_insE	ENST00000397301.1	37	c.283_284		11																																																																																			TNNT3	-	pfam_Troponin	ENSG00000130595		0.604	TNNT3-010	KNOWN	basic	protein_coding	TNNT3	HGNC	protein_coding	OTTHUMT00000142920.3	75	0.00	0	-	NM_006757		1955029	1955030	+1	no_errors	ENST00000397301	ensembl	human	known	69_37n	in_frame_ins	20	41.18	14	INS	1.000:1.000	AGG
TOX4	9878	genome.wustl.edu	37	14	21961177	21961177	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr14:21961177C>G	ENST00000405508.1	+	8	1678	c.1402C>G	c.(1402-1404)Cca>Gca	p.P468A	TOX4_ENST00000262709.3_Missense_Mutation_p.P468A|TOX4_ENST00000448790.2_Missense_Mutation_p.P445A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	468	Gln/Pro-rich.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GCAGCCTCCTCCACTCCAGGC	0.542																																						dbGAP											0													88.0	79.0	82.0					14																	21961177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1402C>G	14.37:g.21961177C>G	ENSP00000385102:p.Pro468Ala		B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P468A	ENST00000405508.1	37	c.1402	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357982	0.82243	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12774	2.65;2.65;2.65	4.96	4.96	0.65561	.	0.118844	0.56097	D	0.000025	T	0.28167	0.0695	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.01033	-1.1474	10	0.59425	D	0.04	.	17.4866	0.87691	0.0:1.0:0.0:0.0	.	445;468	B4DPY8;O94842	.;TOX4_HUMAN	A	468;468;445;396	ENSP00000385102:P468A;ENSP00000262709:P468A;ENSP00000393080:P445A	ENSP00000262709:P468A	P	+	1	0	TOX4	21031017	0.987000	0.35691	1.000000	0.80357	0.910000	0.53928	5.526000	0.67116	2.740000	0.93945	0.455000	0.32223	CCA	TOX4	-	NULL	ENSG00000092203		0.542	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	39	0.00	0	C	NM_014828		21961177	21961177	+1	no_errors	ENST00000262709	ensembl	human	known	69_37n	missense	31	38.00	19	SNP	1.000	G
TP63	8626	genome.wustl.edu	37	3	189612137	189612137	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:189612137C>G	ENST00000264731.3	+	14	1978	c.1889C>G	c.(1888-1890)tCc>tGc	p.S630C	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.S532C|TP63_ENST00000449992.1_Missense_Mutation_p.S451C|TP63_ENST00000382063.4_Missense_Mutation_p.S545C|TP63_ENST00000354600.5_Missense_Mutation_p.S536C|TP63_ENST00000440651.2_Missense_Mutation_p.S626C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	630	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGTGGGCTCCAGTGAGACC	0.572										HNSCC(45;0.13)																												dbGAP											0													117.0	112.0	114.0					3																	189612137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1889C>G	3.37:g.189612137C>G	ENSP00000264731:p.Ser630Cys		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.S630C	ENST00000264731.3	37	c.1889	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690757	0.88735	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.9	5.9	0.94986	.	0.057040	0.64402	D	0.000001	D	0.84156	0.5410	N	0.08118	0	0.80722	D	1	D;D;D	0.67145	0.994;0.994;0.996	D;D;D	0.65987	0.94;0.94;0.91	D	0.83604	0.0130	9	.	.	.	-22.1505	19.2671	0.93993	0.0:1.0:0.0:0.0	.	451;536;630	Q9H3D4-10;Q9H3D4-2;Q9H3D4	.;.;P63_HUMAN	C	630;626;545;536;451;532	ENSP00000264731:S630C;ENSP00000394337:S626C;ENSP00000371495:S545C;ENSP00000346614:S536C;ENSP00000387839:S451C;ENSP00000389485:S532C	.	S	+	2	0	TP63	191094831	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.258000	0.78371	2.788000	0.95919	0.650000	0.86243	TCC	TP63	-	NULL	ENSG00000073282		0.572	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	94	0.00	0	C	NM_003722		189612137	189612137	+1	no_errors	ENST00000264731	ensembl	human	known	69_37n	missense	35	43.55	27	SNP	1.000	G
TRAF3IP3	80342	genome.wustl.edu	37	1	209935932	209935932	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:209935932G>C	ENST00000367024.1	+	4	934	c.418G>C	c.(418-420)Gac>Cac	p.D140H	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D120H|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.D120H|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D140H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D120H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	140						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GGATCTGTCTGACCACCTCTC	0.587																																						dbGAP											0													79.0	75.0	76.0					1																	209935932		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.418G>C	1.37:g.209935932G>C	ENSP00000355991:p.Asp140His		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.D140H	ENST00000367024.1	37	c.418	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593432	0.28357	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.52526	0.68;0.77;0.66;0.77;0.66	4.29	2.41	0.29592	.	1.377970	0.04656	N	0.408062	T	0.45316	0.1336	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.41569	0.545;0.729;0.755;0.545	B;B;B;P	0.45138	0.281;0.281;0.444;0.471	T	0.34079	-0.9843	10	0.52906	T	0.07	1.3834	6.4713	0.22009	0.2231:0.0:0.7769:0.0	.	140;120;140;120	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	H	120;140;123;120;140;120	ENSP00000383743:D120H;ENSP00000355992:D140H;ENSP00000355993:D120H;ENSP00000355991:D140H;ENSP00000010338:D120H	ENSP00000010338:D120H	D	+	1	0	TRAF3IP3	208002555	0.004000	0.15560	0.001000	0.08648	0.070000	0.16714	1.076000	0.30729	0.449000	0.26747	0.585000	0.79938	GAC	TRAF3IP3	-	NULL	ENSG00000009790		0.587	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	49	0.00	0	G			209935932	209935932	+1	no_errors	ENST00000367024	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.001	C
TRAK2	66008	genome.wustl.edu	37	2	202245494	202245494	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:202245494C>G	ENST00000332624.3	-	16	2945	c.2517G>C	c.(2515-2517)aaG>aaC	p.K839N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	839					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCCCCAGTCTCTTCAGCCTGT	0.517																																						dbGAP											0													79.0	83.0	81.0					2																	202245494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2517G>C	2.37:g.202245494C>G	ENSP00000328875:p.Lys839Asn		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.K839N	ENST00000332624.3	37	c.2517	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983557	0.74474	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.52295	0.67	5.93	4.15	0.48705	Trafficking kinesin-binding protein domain (1);	0.127966	0.53938	D	0.000054	T	0.61236	0.2331	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.62015	-0.6943	10	0.72032	D	0.01	.	10.0619	0.42279	0.0:0.795:0.0:0.205	.	839	O60296	TRAK2_HUMAN	N	839;745	ENSP00000328875:K839N	ENSP00000328875:K839N	K	-	3	2	TRAK2	201953739	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.865000	0.39479	0.851000	0.35264	0.591000	0.81541	AAG	TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.517	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	66	0.00	0	C	NM_015049		202245494	202245494	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	51	39.29	33	SNP	1.000	G
TRBV20-1	28567	genome.wustl.edu	37	7	142334807	142334807	+	RNA	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:142334807G>A	ENST00000390394.3	+	0	307									T cell receptor beta variable 20-1																		GCAAGGCGTCGAGAAGGACAA	0.517											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													96.0	93.0	94.0					7																	142334807		2069	4215	6284	-	-	-			0			M11955		7q34	2012-02-07			ENSG00000211747	ENSG00000211747		"""T cell receptors / TRB locus"""	12196	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV201, TCRBV20S1, TCRBV2S1			OTTHUMG00000158899		7.37:g.142334807G>A		1670		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E77K	ENST00000390394.3	37	c.229		7																																																																																			TRBV20-1	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211747		0.517	TRBV20-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV20-1	HGNC	TR_V_gene	OTTHUMT00000352511.2	76	0.00	0	G	NG_001333		142334807	142334807	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390394	ensembl	human	known	69_37n	missense	72	30.10	31	SNP	0.000	A
TRIM14	9830	genome.wustl.edu	37	9	100862276	100862276	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:100862276C>T	ENST00000341469.2	-	3	483	c.474G>A	c.(472-474)atG>atA	p.M158I	TRIM14_ENST00000375098.3_Missense_Mutation_p.M158I|TRIM14_ENST00000342043.3_Missense_Mutation_p.M158I	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	158					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGAGATCATTCATGATGTCAA	0.517																																					Colon(14;460 597 13826 51781)	dbGAP											0													127.0	116.0	120.0					9																	100862276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.474G>A	9.37:g.100862276C>T	ENSP00000344208:p.Met158Ile		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin	p.M158I	ENST00000341469.2	37	c.474	CCDS6734.1	9	.	.	.	.	.	.	.	.	.	.	C	4.118	0.020058	0.08006	.	.	ENSG00000106785	ENST00000375098;ENST00000311688;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.55760	0.5;0.5;0.5	5.12	-3.08	0.05347	.	0.962503	0.08665	N	0.911834	T	0.39627	0.1085	L	0.45137	1.4	0.09310	N	0.999995	B;B;B;B	0.28850	0.225;0.0;0.0;0.0	B;B;B;B	0.33042	0.157;0.0;0.001;0.0	T	0.36672	-0.9738	10	0.29301	T	0.29	.	4.9542	0.14031	0.2624:0.2041:0.0:0.5335	.	1;158;158;158	F8W956;Q14142-2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	I	158;1;158;158;158;158	ENSP00000364239:M158I;ENSP00000344208:M158I;ENSP00000343990:M158I	ENSP00000307909:M1I	M	-	3	0	TRIM14	99902097	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.411000	0.02478	-0.471000	0.06891	-1.012000	0.02466	ATG	TRIM14	-	NULL	ENSG00000106785		0.517	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM14	HGNC	protein_coding	OTTHUMT00000053350.1	128	0.00	0	C	NM_014788		100862276	100862276	-1	no_errors	ENST00000341469	ensembl	human	known	69_37n	missense	82	30.51	36	SNP	0.000	T
TRIM2	23321	genome.wustl.edu	37	4	154191674	154191674	+	Intron	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:154191674A>G	ENST00000437508.2	+	2	335				TRIM2_ENST00000338700.5_Intron|TRIM2_ENST00000494872.1_Intron	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2						cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TGCGAGAGGTAAGCCTCCTTT	0.483																																						dbGAP											0													124.0	109.0	114.0					4																	154191674		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.134+3A>G	4.37:g.154191674A>G			D3DP09|O60272|Q9BSI9|Q9UFZ1	RNA	SNP	-	NULL	ENST00000437508.2	37	NULL	CCDS47147.1	4																																																																																			TRIM2	-	-	ENSG00000109654		0.483	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	89	0.00	0	A			154191674	154191674	+1	no_errors	ENST00000502281	ensembl	human	putative	69_37n	rna	39	40.91	27	SNP	1.000	G
TRIM24	8805	genome.wustl.edu	37	7	138269670	138269670	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:138269670A>G	ENST00000343526.4	+	19	3342	c.3127A>G	c.(3127-3129)Att>Gtt	p.I1043V	TRIM24_ENST00000415680.2_Missense_Mutation_p.I1009V			O15164	TIF1A_HUMAN	tripartite motif containing 24	1043					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCTCAAAAGCATTGAAGAACG	0.348																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													55.0	56.0	56.0					7																	138269670		2199	4295	6494	-	-	-	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.3127A>G	7.37:g.138269670A>G	ENSP00000340507:p.Ile1043Val		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.I1043V	ENST00000343526.4	37	c.3127	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	A	1.045	-0.677489	0.03378	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.75050	-0.89;-0.9	5.85	0.284	0.15701	.	0.795689	0.12381	N	0.473905	T	0.49081	0.1536	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.16722	0.0;0.016	T	0.35375	-0.9791	10	0.02654	T	1	0.129	2.2994	0.04158	0.4614:0.3077:0.0826:0.1483	.	1043;1009	O15164;O15164-2	TIF1A_HUMAN;.	V	1043;435;954;1009	ENSP00000340507:I1043V;ENSP00000390829:I1009V	ENSP00000340507:I1043V	I	+	1	0	TRIM24	137920210	0.005000	0.15991	0.204000	0.23530	0.995000	0.86356	0.117000	0.15583	0.094000	0.17404	0.528000	0.53228	ATT	TRIM24	-	NULL	ENSG00000122779		0.348	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	20	0.00	0	A	NM_015905		138269670	138269670	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	0.134	G
TRIM3	10612	genome.wustl.edu	37	11	6477399	6477399	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:6477399C>T	ENST00000525074.1	-	7	1830	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	479					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532																																					Melanoma(6;5 510 1540 25169 29084)	dbGAP											0													104.0	94.0	97.0					11																	6477399		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1436G>A	11.37:g.6477399C>T	ENSP00000433102:p.Arg479His		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R479H	ENST00000525074.1	37	c.1436	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367974	0.61513	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;D	0.83914	-0.66;-0.66;-0.84;-0.66;-1.78	5.66	4.75	0.60458	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	N	0.19112	0.55	0.48341	D	0.999638	P;B	0.34892	0.474;0.188	B;B	0.26969	0.075;0.023	T	0.62826	-0.6772	10	0.19147	T	0.46	-11.2427	9.8247	0.40905	0.0:0.842:0.0:0.158	.	360;479	F5H2Q8;O75382	.;TRIM3_HUMAN	H	479;479;479;479;468;401;479;360	ENSP00000433102:R479H;ENSP00000340797:R479H;ENSP00000441091:R401H;ENSP00000352508:R479H;ENSP00000445460:R360H	ENSP00000337094:R468H	R	-	2	0	TRIM3	6433975	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	3.092000	0.50207	1.391000	0.46566	0.563000	0.77884	CGT	TRIM3	-	pfscan_NHL_repeat_subgr	ENSG00000110171		0.532	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	97	0.00	0	C	NM_006458		6477399	6477399	-1	no_errors	ENST00000345851	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	0.992	T
TRMT11	60487	genome.wustl.edu	37	6	126319391	126319391	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:126319391C>T	ENST00000334379.5	+	5	438	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TRMT11_ENST00000450358.1_Missense_Mutation_p.S106F|TRMT11_ENST00000368332.3_Missense_Mutation_p.S106F	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	106					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CATTCGGACTCTACATATAAA	0.284																																						dbGAP											0													42.0	43.0	43.0					6																	126319391		2184	4294	6478	-	-	-	SO:0001583	missense	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.317C>T	6.37:g.126319391C>T	ENSP00000333934:p.Ser106Phe		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.S106F	ENST00000334379.5	37	c.317	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885036	0.51908	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.95	5.06	0.68205	.	0.051218	0.85682	D	0.000000	T	0.33469	0.0864	M	0.77313	2.365	0.58432	D	0.999999	B;P	0.40398	0.019;0.716	B;B	0.32805	0.023;0.153	T	0.44862	-0.9300	10	0.56958	D	0.05	-18.5513	11.5001	0.50433	0.0:0.8064:0.1262:0.0674	.	106;106	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	F	106;106;106;43;43	ENSP00000333934:S106F;ENSP00000405140:S106F;ENSP00000357316:S106F;ENSP00000406230:S43F;ENSP00000415724:S43F	ENSP00000333934:S106F	S	+	2	0	TRMT11	126361084	1.000000	0.71417	0.992000	0.48379	0.844000	0.47949	3.871000	0.56077	2.824000	0.97209	0.655000	0.94253	TCT	TRMT11	-	pirsf_tRNA_mtfrase_TRM11	ENSG00000066651		0.284	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		93	0.00	0	C	NM_021820		126319391	126319391	+1	no_errors	ENST00000334379	ensembl	human	known	69_37n	missense	36	66.36	71	SNP	1.000	T
TRMT6	51605	genome.wustl.edu	37	20	5923223	5923223	+	Missense_Mutation	SNP	C	C	G	rs6139876	byFrequency	TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:5923223C>G	ENST00000203001.2	-	7	1007	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	TRMT6_ENST00000453074.2_Missense_Mutation_p.E123Q|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	293			E -> K (in dbSNP:rs6139876).		regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TGTTTTTCCTCCAGTGTGCCA	0.443																																						dbGAP											0													147.0	143.0	144.0					20																	5923223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.877G>C	20.37:g.5923223C>G	ENSP00000203001:p.Glu293Gln		B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	p.E293Q	ENST00000203001.2	37	c.877	CCDS13093.1	20	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753069	0.69648	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.24151	1.87;1.87	6.17	5.23	0.72850	.	0.465118	0.23577	N	0.046693	T	0.15176	0.0366	N	0.00926	-1.1	0.35984	D	0.836199	D;B	0.53151	0.958;0.316	P;B	0.51742	0.678;0.11	T	0.46190	-0.9209	10	0.22109	T	0.4	-11.129	15.699	0.77528	0.0:0.9348:0.0:0.0652	.	123;293	B4DUV6;Q9UJA5	.;TRM6_HUMAN	Q	293;123	ENSP00000203001:E293Q;ENSP00000392070:E123Q	ENSP00000203001:E293Q	E	-	1	0	TRMT6	5871223	0.989000	0.36119	0.954000	0.39281	0.991000	0.79684	2.869000	0.48444	1.630000	0.50440	0.655000	0.94253	GAG	TRMT6	-	pirsf_tRNA_m1A_mtfrase	ENSG00000089195		0.443	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2	221	0.00	0	C			5923223	5923223	-1	no_errors	ENST00000203001	ensembl	human	known	69_37n	missense	224	34.69	119	SNP	1.000	G
TRPM6	140803	genome.wustl.edu	37	9	77377431	77377431	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:77377431G>A	ENST00000360774.1	-	26	4393	c.4156C>T	c.(4156-4158)Cat>Tat	p.H1386Y	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.H1386Y|TRPM6_ENST00000451710.3_Missense_Mutation_p.H1386Y|TRPM6_ENST00000361255.3_Missense_Mutation_p.H1381Y|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1381Y	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1386					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAGTCAGATGAACAAGAACC	0.512																																						dbGAP											0													102.0	97.0	99.0					9																	77377431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4156C>T	9.37:g.77377431G>A	ENSP00000354006:p.His1386Tyr		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.H1386Y	ENST00000360774.1	37	c.4156	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527308	0.44969	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.53857	0.69;0.69;0.69;0.69;0.6	5.9	2.66	0.31614	.	1.331020	0.04360	N	0.357321	T	0.44329	0.1288	L	0.32530	0.975	0.09310	N	1	P;P;P	0.40731	0.608;0.61;0.728	B;B;B	0.34652	0.091;0.187;0.187	T	0.45760	-0.9239	10	0.49607	T	0.09	.	12.2549	0.54619	0.2148:0.0:0.7852:0.0	.	1386;1381;1381	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	Y	1386;1386;1381;1381;1386;1049;1049	ENSP00000354006:H1386Y;ENSP00000407341:H1386Y;ENSP00000396672:H1381Y;ENSP00000354962:H1381Y;ENSP00000366060:H1386Y	ENSP00000309693:H1049Y	H	-	1	0	TRPM6	76567251	0.058000	0.20735	0.003000	0.11579	0.386000	0.30323	1.755000	0.38379	0.846000	0.35142	0.655000	0.94253	CAT	TRPM6	-	NULL	ENSG00000119121		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	70	0.00	0	G	NM_017662		77377431	77377431	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	27	48.08	25	SNP	0.001	A
TSEN54	283989	genome.wustl.edu	37	17	73517571	73517571	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:73517571G>C	ENST00000333213.6	+	7	639	c.603G>C	c.(601-603)aaG>aaC	p.K201N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	201					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAAGAGAAAGAGGAGCAGCT	0.582																																						dbGAP											0													106.0	98.0	101.0					17																	73517571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.603G>C	17.37:g.73517571G>C	ENSP00000327487:p.Lys201Asn		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.K201N	ENST00000333213.6	37	c.603	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	9.745	1.166033	0.21538	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.61392	0.11	5.53	4.55	0.56014	.	0.089003	0.85682	D	0.000000	T	0.52773	0.1755	M	0.68952	2.095	0.49130	D	0.99975	P	0.38922	0.651	B	0.35859	0.212	T	0.55153	-0.8185	10	0.36615	T	0.2	-28.5426	11.9155	0.52763	0.1382:0.0:0.8617:0.0	.	201	Q7Z6J9	SEN54_HUMAN	N	100;201	ENSP00000327487:K201N	ENSP00000327487:K201N	K	+	3	2	TSEN54	71029166	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	3.621000	0.54210	2.603000	0.88011	0.655000	0.94253	AAG	TSEN54	-	NULL	ENSG00000182173		0.582	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	97	0.00	0	G	NM_207346		73517571	73517571	+1	no_errors	ENST00000333213	ensembl	human	known	69_37n	missense	21	46.15	18	SNP	1.000	C
TSPAN11	441631	genome.wustl.edu	37	12	31135536	31135536	+	Missense_Mutation	SNP	G	G	A	rs202130566		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:31135536G>A	ENST00000261177.9	+	6	585	c.526G>A	c.(526-528)Gag>Aag	p.E176K	TSPAN11_ENST00000546076.1_Missense_Mutation_p.E176K|TSPAN11_ENST00000535215.1_Missense_Mutation_p.E105K|TSPAN11_ENST00000544427.1_Missense_Mutation_p.E166K	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	176						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCGGGAGGCCGAGGGCCGCCA	0.647																																						dbGAP											0													25.0	27.0	26.0					12																	31135536		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.526G>A	12.37:g.31135536G>A	ENSP00000261177:p.Glu176Lys		A1L158|B2RUX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E176K	ENST00000261177.9	37	c.526	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	G	5.189	0.220371	0.09863	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.01	-1.76	0.08006	Tetraspanin, EC2 domain (1);	0.917586	0.09014	N	0.861055	T	0.61426	0.2346	L	0.41356	1.27	0.22479	N	0.999069	B;B	0.23442	0.085;0.037	B;B	0.13407	0.009;0.009	T	0.41645	-0.9497	10	0.08837	T	0.75	.	6.3361	0.21296	0.1827:0.4152:0.4021:0.0	.	166;176	F5H0F0;A1L157	.;TSN11_HUMAN	K	176;105;166;176	ENSP00000437403:E176K;ENSP00000445503:E105K;ENSP00000439895:E166K;ENSP00000261177:E176K	ENSP00000261177:E176K	E	+	1	0	TSPAN11	31026803	0.751000	0.28327	0.713000	0.30519	0.265000	0.26407	-0.055000	0.11807	-0.937000	0.03719	-0.671000	0.03813	GAG	TSPAN11	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000110900		0.647	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	37	0.00	0	G	XM_497334		31135536	31135536	+1	no_errors	ENST00000261177	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.980	A
TSPAN5	10098	genome.wustl.edu	37	4	99403180	99403181	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr4:99403180_99403181insT	ENST00000305798.3	-	4	827_828	c.425_426insA	c.(424-426)aacfs	p.N142fs	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Frame_Shift_Ins_p.N71fs	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	142					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		AGTCTATGAGGTTTTGCAAATC	0.381																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.426dupA	4.37:g.99403184_99403184dupT	ENSP00000307701:p.Asn142fs		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Frame_Shift_Ins	INS	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.N142fs	ENST00000305798.3	37	c.426_425	CCDS3646.1	4																																																																																			TSPAN5	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000168785		0.381	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN5	HGNC	protein_coding	OTTHUMT00000253641.2	168	0.00	0	-	NM_005723		99403180	99403181	-1	no_errors	ENST00000305798	ensembl	human	known	69_37n	frame_shift_ins	103	26.95	38	INS	1.000:1.000	T
TTBK2	146057	genome.wustl.edu	37	15	43102874	43102874	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:43102874C>T	ENST00000267890.6	-	9	868	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	TTBK2_ENST00000567274.1_Missense_Mutation_p.E219K|TTBK2_ENST00000567840.1_Missense_Mutation_p.E254K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATGCTGAATTCTGGAGGGAGA	0.393																																						dbGAP											0													122.0	114.0	117.0					15																	43102874		1856	4091	5947	-	-	-	SO:0001583	missense	0			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.760G>A	15.37:g.43102874C>T	ENSP00000267890:p.Glu254Lys		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E254K	ENST00000267890.6	37	c.760	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.923619	0.97110	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.23147	1.92	5.85	5.85	0.93711	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045545	0.85682	D	0.000000	T	0.60637	0.2284	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.99;0.985	D;D;P;D	0.74674	0.984;0.969;0.897;0.982	T	0.66488	-0.5911	10	0.87932	D	0	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	234;185;254;254	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	K	254;184;234	ENSP00000267890:E254K	ENSP00000263802:E234K	E	-	1	0	TTBK2	40890166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.652000	0.83633	2.761000	0.94854	0.655000	0.94253	GAA	TTBK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000128881		0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	95	0.00	0	C	NM_173500		43102874	43102874	-1	no_errors	ENST00000267890	ensembl	human	known	69_37n	missense	34	53.42	39	SNP	1.000	T
TTC21A	199223	genome.wustl.edu	37	3	39162578	39162578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:39162578G>T	ENST00000431162.2	+	9	1149	c.1015G>T	c.(1015-1017)Gaa>Taa	p.E339*	TTC21A_ENST00000301819.6_Nonsense_Mutation_p.E339*|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E290*			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	339										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGGCCACAGAACTGGGCTA	0.512																																						dbGAP											0													130.0	125.0	126.0					3																	39162578		1966	4168	6134	-	-	-	SO:0001587	stop_gained	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1015G>T	3.37:g.39162578G>T	ENSP00000398211:p.Glu339*		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Nonsense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E339*	ENST00000431162.2	37	c.1015	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416050	0.83449	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-29.997	19.1568	0.93514	0.0:0.0:1.0:0.0	.	.	.	.	X	339;331;339;290	.	ENSP00000301819:E339X	E	+	1	0	TTC21A	39137582	1.000000	0.71417	0.983000	0.44433	0.162000	0.22319	6.852000	0.75430	2.825000	0.97269	0.655000	0.94253	GAA	TTC21A	-	smart_TPR_repeat,pfscan_TPR_repeat	ENSG00000168026		0.512	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	163	0.00	0	G	NM_145755		39162578	39162578	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	nonsense	68	41.88	49	SNP	1.000	T
TTC28	23331	genome.wustl.edu	37	22	28693820	28693820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:28693820G>A	ENST00000397906.2	-	4	691	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	TTC28_ENST00000490475.1_5'UTR	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	184					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						TGAAGCTGCTGATAAGTGGGC	0.453																																						dbGAP											0													68.0	63.0	65.0					22																	28693820		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.550C>T	22.37:g.28693820G>A	ENSP00000381003:p.Gln184*		K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q184*	ENST00000397906.2	37	c.550	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035318	0.93630	.	.	ENSG00000100154	ENST00000397906	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-15.3429	17.0258	0.86446	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000381003:Q184X	Q	-	1	0	TTC28	27023820	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.650000	0.83521	2.261000	0.74972	0.313000	0.20887	CAG	TTC28	-	pfscan_TPR-contain_dom	ENSG00000100154		0.453	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	69	0.00	0	G	XM_929318		28693820	28693820	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	nonsense	24	50.00	24	SNP	1.000	A
TTC39B	158219	genome.wustl.edu	37	9	15175073	15175073	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:15175073A>G	ENST00000512701.2	-	19	1938	c.1902T>C	c.(1900-1902)tcT>tcC	p.S634S	TTC39B_ENST00000507285.1_Silent_p.S469S|TTC39B_ENST00000380850.4_Silent_p.S621S|TTC39B_ENST00000507993.1_Silent_p.S469S|TTC39B_ENST00000355694.2_Silent_p.S568S|TTC39B_ENST00000297615.5_Silent_p.S565S			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	634										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTTTATACAAAGATGCCAATT	0.398																																						dbGAP											0													113.0	108.0	110.0					9																	15175073		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1902T>C	9.37:g.15175073A>G			A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.S634	ENST00000512701.2	37	c.1902	CCDS6477.2	9																																																																																			TTC39B	-	smart_TPR_repeat	ENSG00000155158		0.398	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	82	0.00	0	A	NM_152574		15175073	15175073	-1	no_errors	ENST00000512701	ensembl	human	known	69_37n	silent	78	35.54	43	SNP	1.000	G
TTLL3	26140	genome.wustl.edu	37	3	9870740	9870740	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:9870740G>C	ENST00000547186.1	+	10	1431	c.1215G>C	c.(1213-1215)caG>caC	p.Q405H	TTLL3_ENST00000383827.1_Missense_Mutation_p.Q193H|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q193H|TTLL3_ENST00000455274.1_Missense_Mutation_p.Q193H|TTLL3_ENST00000426895.4_Missense_Mutation_p.Q548H|TTLL3_ENST00000427853.3_Missense_Mutation_p.Q193H|TTLL3_ENST00000397241.1_Missense_Mutation_p.Q193H|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.Q466H	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	405	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGTCTAGCCAGAGGTTCCAGG	0.572																																						dbGAP											0													101.0	90.0	94.0					3																	9870740		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1215G>C	3.37:g.9870740G>C	ENSP00000446659:p.Gln405His		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q548H	ENST00000547186.1	37	c.1644		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.770528|1.770528	0.31320|0.31320	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.06068	.|3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.653792	.|0.13895	.|U	.|0.355344	T|T	0.08758|0.08758	0.0217|0.0217	L|L	0.35288|0.35288	1.05|1.05	0.25718|0.25718	N|N	0.985403|0.985403	.|B;B;B;B;P;B	.|0.46142	.|0.002;0.002;0.005;0.008;0.873;0.01	.|B;B;B;B;P;B	.|0.49140	.|0.043;0.014;0.013;0.026;0.601;0.035	T|T	0.26326|0.26326	-1.0106|-1.0106	5|10	.|0.36615	.|T	.|0.2	.|.	8.4435|8.4435	0.32828|0.32828	0.0823:0.1566:0.7611:0.0|0.0823:0.1566:0.7611:0.0	.|.	.|344;193;193;405;466;193	.|B4DM47;Q9Y4R7-2;Q9Y4R7-5;Q9Y4R7;E7ETI0;C9JSD3	.|.;.;.;TTLL3_HUMAN;.;.	Q|H	361|466;548;405;193;193;343;193;193;193	.|ENSP00000380427:Q466H;ENSP00000392549:Q548H;ENSP00000446659:Q405H;ENSP00000380416:Q193H;ENSP00000394462:Q193H;ENSP00000398097:Q343H;ENSP00000373338:Q193H;ENSP00000409632:Q193H;ENSP00000403874:Q193H	.|ENSP00000380416:Q193H	E|Q	+|+	1|3	0|2	TTLL3|ARPC4-TTLL3;TTLL3	9845740|9845740	0.194000|0.194000	0.23325|0.23325	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	0.483000|0.483000	0.22292|0.22292	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	GAG|CAG	TTLL3	-	pfam_Tub_tyr_ligase	ENSG00000214021		0.572	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		59	0.00	0	G	NM_001025930.2		9870740	9870740	+1	no_errors	ENST00000426895	ensembl	human	known	69_37n	missense	37	30.19	16	SNP	0.998	C
TTN	7273	genome.wustl.edu	37	2	179396976	179396976	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179396976T>C	ENST00000591111.1	-	308	99667	c.99443A>G	c.(99442-99444)gAa>gGa	p.E33148G	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25724G|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34789G|TTN_ENST00000342992.6_Missense_Mutation_p.E32221G|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25849G|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25916G|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33148					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)			GAAGTCAAGTTCGCTTTTGTA	0.433																																						dbGAP											0													158.0	144.0	148.0					2																	179396976		1948	4147	6095	-	-	-	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.99443A>G	2.37:g.179396976T>C	ENSP00000465570:p.Glu33148Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E32221G	ENST00000591111.1	37	c.96662		2	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745217	0.49151	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.1;-0.12;-0.13	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.53562	0.1804	N	0.14661	0.345	0.45515	D	0.998472	B;B;B;B	0.24963	0.115;0.115;0.115;0.115	B;B;B;B	0.28139	0.046;0.046;0.086;0.086	T	0.55982	-0.8054	9	0.87932	D	0	.	15.3584	0.74448	0.0:0.0:0.0:1.0	.	25724;25849;25916;33148	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	32221;25724;25916;25849;25721	ENSP00000343764:E32221G;ENSP00000434586:E25724G;ENSP00000340554:E25916G;ENSP00000352154:E25849G	ENSP00000340554:E25916G	E	-	2	0	TTN	179105222	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	7.636000	0.83301	2.110000	0.64415	0.528000	0.53228	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	256	0.00	0	T	NM_133378		179396976	179396976	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	209	25.36	71	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179428340	179428340	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179428340C>G	ENST00000591111.1	-	276	77820	c.77596G>C	c.(77596-77598)Gaa>Caa	p.E25866Q	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18442Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27507Q|TTN_ENST00000342992.6_Missense_Mutation_p.E24939Q|TTN_ENST00000359218.5_Missense_Mutation_p.E18567Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18634Q			Q8WZ42	TITIN_HUMAN	titin	25866	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TCTCGTTTTTCAAGAATGTAG	0.473																																						dbGAP											0													125.0	123.0	124.0					2																	179428340		1975	4157	6132	-	-	-	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.77596G>C	2.37:g.179428340C>G	ENSP00000465570:p.Glu25866Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E24939Q	ENST00000591111.1	37	c.74815		2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046938	0.36085	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.97	4.13	0.48395	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49338	0.1551	L	0.53671	1.685	0.54753	D	0.99998	B;B;B;B	0.33494	0.414;0.414;0.414;0.414	B;B;B;B	0.33690	0.168;0.168;0.168;0.168	T	0.51387	-0.8712	9	0.87932	D	0	.	13.122	0.59331	0.1286:0.748:0.1234:0.0	.	18442;18567;18634;25866	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	24939;18442;18634;18567;18440	ENSP00000343764:E24939Q;ENSP00000434586:E18442Q;ENSP00000340554:E18634Q;ENSP00000352154:E18567Q	ENSP00000340554:E18634Q	E	-	1	0	TTN	179136586	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.818000	0.86416	0.814000	0.34374	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	35	0.00	0	C	NM_133378		179428340	179428340	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179435966	179435966	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179435966G>C	ENST00000591111.1	-	276	70194	c.69970C>G	c.(69970-69972)Caa>Gaa	p.Q23324E	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q15900E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q24965E|TTN_ENST00000342992.6_Missense_Mutation_p.Q22397E|TTN_ENST00000359218.5_Missense_Mutation_p.Q16025E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q16092E			Q8WZ42	TITIN_HUMAN	titin	23324	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			AACTTGGTTTGAGGAATAGGT	0.418																																						dbGAP											0													102.0	97.0	99.0					2																	179435966		1909	4131	6040	-	-	-	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.69970C>G	2.37:g.179435966G>C	ENSP00000465570:p.Gln23324Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q22397E	ENST00000591111.1	37	c.67189		2	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343579	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.28	4.39	0.52855	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28632	0.0709	N	0.01649	-0.78	0.35304	D	0.783274	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.31861	-0.9928	9	0.87932	D	0	.	14.976	0.71273	0.0:0.4323:0.5677:0.0	.	15900;16025;16092;23324	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	22397;15900;16092;16025;15898	ENSP00000343764:Q22397E;ENSP00000434586:Q15900E;ENSP00000340554:Q16092E;ENSP00000352154:Q16025E	ENSP00000340554:Q16092E	Q	-	1	0	TTN	179144212	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.653000	0.61462	1.336000	0.45506	0.650000	0.86243	CAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	68	0.00	0	G	NM_133378		179435966	179435966	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	74	25.25	25	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179595841	179595841	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179595841C>G	ENST00000591111.1	-	58	16824	c.16600G>C	c.(16600-16602)Gag>Cag	p.E5534Q	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E5851Q|TTN_ENST00000342992.6_Missense_Mutation_p.E4607Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12351	Ig-like 36.				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)			GCTGTAATCTCCTTAGTCCCT	0.418																																						dbGAP											0													135.0	127.0	130.0					2																	179595841		1849	4094	5943	-	-	-	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.16600G>C	2.37:g.179595841C>G	ENSP00000465570:p.Glu5534Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E4607Q	ENST00000591111.1	37	c.13819		2	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470394	0.26423	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65450	0.2692	L	0.39397	1.21	0.80722	D	1	B	0.25048	0.117	B	0.34991	0.193	T	0.63906	-0.6531	9	0.87932	D	0	.	17.3213	0.87236	0.0:0.8752:0.1247:0.0	.	5534	Q8WZ42	TITIN_HUMAN	Q	4607	ENSP00000343764:E4607Q	ENSP00000343764:E4607Q	E	-	1	0	TTN	179304086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.285000	0.58989	2.832000	0.97577	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	165	0.00	0	C	NM_133378		179595841	179595841	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	111	34.32	58	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179602965	179602965	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179602965C>G	ENST00000591111.1	-	47	13488	c.13264G>C	c.(13264-13266)Gaa>Caa	p.E4422Q	TTN_ENST00000460472.2_Missense_Mutation_p.E4376Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4739Q|TTN_ENST00000342992.6_Missense_Mutation_p.E3495Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4501Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4568Q			Q8WZ42	TITIN_HUMAN	titin	12177	Ig-like 24.				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)			TCATAAATTTCTCGGCCAGCT	0.478																																						dbGAP											0													60.0	56.0	58.0					2																	179602965		1859	4096	5955	-	-	-	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.13264G>C	2.37:g.179602965C>G	ENSP00000465570:p.Glu4422Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E3495Q	ENST00000591111.1	37	c.10483		2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577218	0.45902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.67	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71660	0.3366	M	0.62154	1.92	0.26625	N	0.972582	P;P;P;P	0.47034	0.798;0.798;0.798;0.889	B;B;B;P	0.46758	0.373;0.373;0.373;0.526	T	0.67647	-0.5617	9	0.87932	D	0	.	16.6716	0.85268	0.0:0.8702:0.1298:0.0	.	4376;4501;4568;4422	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	3495;4376;4568;4501;4376	ENSP00000343764:E3495Q;ENSP00000434586:E4376Q;ENSP00000340554:E4568Q;ENSP00000352154:E4501Q	ENSP00000340554:E4568Q	E	-	1	0	TTN	179311210	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.983000	0.63832	1.400000	0.46741	0.462000	0.41574	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	97	0.00	0	C	NM_133378		179602965	179602965	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	67	37.96	41	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179643760	179643760	+	Missense_Mutation	SNP	C	C	T	rs539470256		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179643760C>T	ENST00000591111.1	-	24	4273	c.4049G>A	c.(4048-4050)cGt>cAt	p.R1350H	TTN_ENST00000460472.2_Missense_Mutation_p.R1304H|TTN_ENST00000589042.1_Missense_Mutation_p.R1350H|TTN_ENST00000342992.6_Missense_Mutation_p.R1350H|TTN_ENST00000359218.5_Missense_Mutation_p.R1304H|TTN_ENST00000360870.5_Missense_Mutation_p.R1350H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1304H			Q8WZ42	TITIN_HUMAN	titin	33546	Ig-like 5.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1304H(4)|p.R1350H(3)		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)			AACAGGTATACGCAGACTAGC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.001		0.0	False		,,,				2504	0.0					dbGAP											7	Substitution - Missense(7)	kidney(6)|stomach(1)											141.0	123.0	129.0					2																	179643760		2203	4300	6503	-	-	-	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.4049G>A	2.37:g.179643760C>T	ENSP00000465570:p.Arg1350His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R1350H	ENST00000591111.1	37	c.4049		2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483763	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	N	0.12569	0.235	0.46981	D	0.999277	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76852	-0.2806	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1304;1304;1304;1350;1350	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1350;1304;1304;1304;1304;1350	ENSP00000343764:R1350H;ENSP00000434586:R1304H;ENSP00000340554:R1304H;ENSP00000352154:R1304H;ENSP00000354117:R1350H	ENSP00000340554:R1304H	R	-	2	0	TTN	179352005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	CGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	111	0.00	0	C	NM_133378		179643760	179643760	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	72	35.71	40	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179656925	179656925	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:179656925C>G	ENST00000591111.1	-	10	1761		c.e10-1		TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						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)			CTTTTCTTATCTGCAAAGAAT	0.274																																						dbGAP											0													60.0	62.0	61.0					2																	179656925		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1537-1G>C	2.37:g.179656925C>G			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	Splice_Site	SNP	-	e9-1	ENST00000591111.1	37	c.1537-1		2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156422	0.57259	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7442	0.77926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179365170	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.986000	0.56937	2.774000	0.95407	0.655000	0.94253	.	TTN	-	-	ENSG00000155657		0.274	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	116	0.00	0	C	NM_133378	Intron	179656925	179656925	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	splice_site	92	31.34	42	SNP	1.000	G
TUBB4A	10382	genome.wustl.edu	37	19	6495394	6495394	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:6495394C>T	ENST00000264071.2	-	4	1487	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	TUBB4A_ENST00000540257.1_Silent_p.T372T|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	372					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CCTGGATGGCCGTGCTGTTGC	0.632																																						dbGAP											0													155.0	140.0	145.0					19																	6495394		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1116G>A	19.37:g.6495394C>T			B3KQP4|Q969E5	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.T372	ENST00000264071.2	37	c.1116	CCDS12168.1	19																																																																																			TUBB4A	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin	ENSG00000104833		0.632	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	72	0.00	0	C	NM_006087		6495394	6495394	-1	no_errors	ENST00000264071	ensembl	human	known	69_37n	silent	49	33.78	25	SNP	0.986	T
TUBGCP2	10844	genome.wustl.edu	37	10	135096600	135096600	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:135096600C>T	ENST00000252936.3	-	14	2310	c.2271G>A	c.(2269-2271)atG>atA	p.M757I	TUBGCP2_ENST00000368563.2_Missense_Mutation_p.M757I|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.M785I|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.M627I|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.M350I			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	757					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTTGGTGAACATGACGCACA	0.637																																						dbGAP											0													183.0	127.0	146.0					10																	135096600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2271G>A	10.37:g.135096600C>T	ENSP00000252936:p.Met757Ile		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.M785I	ENST00000252936.3	37	c.2355	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534998	0.64972	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.29655	2.56;2.3;2.56;1.56;2.56	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	M	0.63428	1.95	0.80722	D	1	B;B;B	0.16802	0.019;0.011;0.018	B;B;B	0.24394	0.009;0.004;0.053	T	0.10177	-1.0641	10	0.37606	T	0.19	-57.9367	17.375	0.87390	0.0:1.0:0.0:0.0	.	785;785;757	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	I	757;627;757;350;785	ENSP00000252936:M757I;ENSP00000395666:M627I;ENSP00000357551:M757I;ENSP00000357550:M350I;ENSP00000446093:M785I	ENSP00000252936:M757I	M	-	3	0	TUBGCP2	134946590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.479000	0.66813	2.770000	0.95276	0.561000	0.74099	ATG	TUBGCP2	-	NULL	ENSG00000130640		0.637	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	103	0.00	0	C			135096600	135096600	-1	no_errors	ENST00000543663	ensembl	human	known	69_37n	missense	28	46.15	24	SNP	1.000	T
TWIST1	7291	genome.wustl.edu	37	7	19156620	19156620	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:19156620G>A	ENST00000242261.5	-	1	675	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	AC003986.6_ENST00000419944.1_RNA|AC003986.7_ENST00000417460.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	109	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						ATGACCCGCTGCGTCTGCAGC	0.731																																						dbGAP											0			GRCh37	CM020323	TWIST1	M							30.0	27.0	28.0					7																	19156620		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.325C>T	7.37:g.19156620G>A	ENSP00000242261:p.Gln109*		A4D128|Q92487|Q99804	Nonsense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.Q109*	ENST00000242261.5	37	c.325	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	g	39	7.692512	0.98438	.	.	ENSG00000122691	ENST00000242261	.	.	.	4.46	4.46	0.54185	.	0.000000	0.46145	D	0.000318	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7295	16.717	0.85399	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	.	Q	-	1	0	TWIST1	19123145	1.000000	0.71417	0.994000	0.49952	0.832000	0.47134	7.675000	0.84002	2.024000	0.59613	0.305000	0.20034	CAG	TWIST1	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000122691		0.731	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	HGNC	protein_coding	OTTHUMT00000207625.1	32	0.00	0	G	NM_000474		19156620	19156620	-1	no_errors	ENST00000242261	ensembl	human	known	69_37n	nonsense	26	23.53	8	SNP	1.000	A
TXNDC11	51061	genome.wustl.edu	37	16	11792007	11792007	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:11792007C>T	ENST00000356957.3	-	8	1269	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	TXNDC11_ENST00000283033.5_Missense_Mutation_p.A361T			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	388					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGACTTTCGGCCAGGGGATTA	0.507																																						dbGAP											0													118.0	118.0	118.0					16																	11792007		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1162G>A	16.37:g.11792007C>T	ENSP00000349439:p.Ala388Thr		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A388T	ENST00000356957.3	37	c.1162		16	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343346	0.41498	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.14391	2.76;2.51	5.48	5.48	0.80851	.	0.394951	0.27696	N	0.018240	T	0.08358	0.0208	L	0.27053	0.805	0.37820	D	0.928367	B;B	0.29612	0.02;0.251	B;B	0.28638	0.021;0.092	T	0.20438	-1.0275	10	0.08837	T	0.75	-18.1945	8.7133	0.34397	0.1508:0.7712:0.0:0.0779	.	388;361	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	T	388;361	ENSP00000349439:A388T;ENSP00000283033:A361T	ENSP00000283033:A361T	A	-	1	0	TXNDC11	11699508	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	1.638000	0.37165	2.595000	0.87683	0.655000	0.94253	GCC	TXNDC11	-	NULL	ENSG00000153066		0.507	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	81	0.00	0	C	NM_015914		11792007	11792007	-1	no_errors	ENST00000356957	ensembl	human	known	69_37n	missense	78	22.00	22	SNP	0.998	T
TXNDC5	81567	genome.wustl.edu	37	6	7883486	7883486	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:7883486G>A	ENST00000379757.4	-	10	1227	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.P289L|TXNDC5_ENST00000539054.1_Missense_Mutation_p.P325L	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	397	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CAATAACGTGGGGTAGCCTCG	0.458																																					Ovarian(119;1430 1625 3928 26125 34589)	dbGAP											0													116.0	99.0	105.0					6																	7883486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1190C>T	6.37:g.7883486G>A	ENSP00000369081:p.Pro397Leu		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.P397L	ENST00000379757.4	37	c.1190	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562697	0.86335	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	D;D;D	0.88741	-2.42;-2.42;-2.42	5.8	5.8	0.92144	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98380	1.0558	10	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	325;397	Q86UY0;Q8NBS9	.;TXND5_HUMAN	L	325;397;289	ENSP00000442453:P325L;ENSP00000369081:P397L;ENSP00000420784:P289L	ENSP00000442453:P325L	P	-	2	0	TXNDC5	7828485	1.000000	0.71417	0.980000	0.43619	0.518000	0.34316	8.373000	0.90131	2.735000	0.93741	0.655000	0.94253	CCC	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	ENSG00000239264		0.458	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	66	0.00	0	G	NM_030810		7883486	7883486	-1	no_errors	ENST00000379757	ensembl	human	known	69_37n	missense	58	26.58	21	SNP	1.000	A
TXNRD1	7296	genome.wustl.edu	37	12	104682791	104682791	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:104682791G>C	ENST00000525566.1	+	4	411	c.387G>C	c.(385-387)aaG>aaC	p.K129N	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000542918.1_Missense_Mutation_p.K29N|TXNRD1_ENST00000429002.2_Missense_Mutation_p.K129N|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000388854.3_Missense_Mutation_p.K31N|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.K78N|TXNRD1_ENST00000526691.1_Missense_Mutation_p.K31N	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	129	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	AACAGAGAAAGATAGGCGGCC	0.542																																					Ovarian(139;555 1836 9186 9946 10884)	dbGAP											0													114.0	118.0	117.0					12																	104682791		1900	4117	6017	-	-	-	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.387G>C	12.37:g.104682791G>C	ENSP00000434516:p.Lys129Asn		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.K129N	ENST00000525566.1	37	c.387	CCDS53820.1	12	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159190	0.21454	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000388854;ENST00000542918;ENST00000378070	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	3.75	1.64	0.23874	Glutaredoxin (1);Thioredoxin-like fold (2);	0.672848	0.16307	N	0.220163	T	0.14527	0.0351	N	0.14661	0.345	0.22240	N	0.999264	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.20638	-1.0269	10	0.22706	T	0.39	-0.0953	5.8554	0.18716	0.0:0.2168:0.5602:0.2229	.	29;31;129	B7Z2S5;Q16881-4;Q16881	.;.;TRXR1_HUMAN	N	129;129;31;31;29;78	ENSP00000434516:K129N;ENSP00000412045:K129N;ENSP00000435929:K31N;ENSP00000373506:K31N;ENSP00000440978:K29N;ENSP00000367310:K78N	ENSP00000367310:K78N	K	+	3	2	TXNRD1	103206921	0.406000	0.25344	0.037000	0.18230	0.971000	0.66376	0.349000	0.20055	0.868000	0.35678	0.449000	0.29647	AAG	TXNRD1	-	superfamily_Thioredoxin-like_fold	ENSG00000198431		0.542	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389960.1	69	0.00	0	G	NM_003330		104682791	104682791	+1	no_errors	ENST00000429002	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.054	C
TYMP	1890	genome.wustl.edu	37	22	50966117	50966117	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:50966117G>A	ENST00000252029.3	-	5	708	c.546C>T	c.(544-546)tgC>tgT	p.C182C	TYMP_ENST00000395681.1_Silent_p.C182C|SCO2_ENST00000395693.3_5'Flank|TYMP_ENST00000395680.1_Silent_p.C182C|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_5'Flank|SCO2_ENST00000543927.1_5'Flank|SCO2_ENST00000252785.3_5'Flank|TYMP_ENST00000395678.3_Silent_p.C182C	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	182					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CCACGATACAGCAGCCCGCCT	0.502																																						dbGAP											0													84.0	80.0	82.0					22																	50966117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.546C>T	22.37:g.50966117G>A			A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.C182	ENST00000252029.3	37	c.546	CCDS14096.1	22																																																																																			TYMP	-	pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	ENSG00000025708		0.502	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	HGNC	protein_coding	OTTHUMT00000317081.1	68	0.00	0	G	NM_001953		50966117	50966117	-1	no_errors	ENST00000252029	ensembl	human	known	69_37n	silent	31	38.00	19	SNP	1.000	A
UBA2	10054	genome.wustl.edu	37	19	34941194	34941194	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:34941194C>A	ENST00000246548.4	+	9	866	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	UBA2_ENST00000439527.2_Missense_Mutation_p.L170M	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	266					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CATCAGGTATCTGTTGACAAT	0.388																																						dbGAP											0													118.0	112.0	114.0					19																	34941194		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.796C>A	19.37:g.34941194C>A	ENSP00000246548:p.Leu266Met		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.L266M	ENST00000246548.4	37	c.796	CCDS12439.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010249	0.75046	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.66099	-0.19;0.95	5.59	3.44	0.39384	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.83469	0.0058	10	0.87932	D	0	-8.7521	12.2979	0.54859	0.0:0.8509:0.0:0.1491	.	266	Q9UBT2	SAE2_HUMAN	M	139;266;170	ENSP00000246548:L266M;ENSP00000437484:L170M	ENSP00000246548:L266M	L	+	1	2	UBA2	39633034	0.936000	0.31750	0.999000	0.59377	0.983000	0.72400	1.254000	0.32897	1.499000	0.48617	0.585000	0.79938	CTG	UBA2	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000126261		0.388	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	HGNC	protein_coding	OTTHUMT00000459257.3	104	0.00	0	C	NM_005499		34941194	34941194	+1	no_errors	ENST00000246548	ensembl	human	known	69_37n	missense	107	32.28	51	SNP	1.000	A
UBE2T	29089	genome.wustl.edu	37	1	202301082	202301082	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:202301082C>T	ENST00000367274.4	-	7	624	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	159					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						ATCTCTTCCTCATCAGCCTAA	0.423																																						dbGAP											0													143.0	128.0	133.0					1																	202301082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.475G>A	1.37:g.202301082C>T	ENSP00000356243:p.Glu159Lys		Q2TU36	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E159K	ENST00000367274.4	37	c.475	CCDS1425.1	1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269909	0.40095	.	.	ENSG00000077152	ENST00000367274	T	0.53423	0.62	5.83	3.98	0.46160	Ubiquitin-conjugating enzyme/RWD-like (1);	0.550372	0.19020	N	0.124845	T	0.30759	0.0775	N	0.24115	0.695	0.09310	N	1	B	0.30763	0.294	B	0.22152	0.038	T	0.20207	-1.0282	10	0.66056	D	0.02	-4.1694	8.9988	0.36069	0.0:0.8314:0.0:0.1686	.	159	Q9NPD8	UBE2T_HUMAN	K	159	ENSP00000356243:E159K	ENSP00000356243:E159K	E	-	1	0	UBE2T	200567705	0.010000	0.17322	0.018000	0.16275	0.133000	0.20885	0.729000	0.26028	0.831000	0.34780	-0.225000	0.12378	GAG	UBE2T	-	NULL	ENSG00000077152		0.423	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	150	0.00	0	C	NM_014176		202301082	202301082	-1	no_errors	ENST00000367274	ensembl	human	known	69_37n	missense	179	25.10	60	SNP	0.030	T
UBTF	7343	genome.wustl.edu	37	17	42284729	42284729	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:42284729C>G	ENST00000302904.4	-	21	2668	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	UBTF_ENST00000529383.1_Missense_Mutation_p.E726Q|UBTF_ENST00000436088.1_Missense_Mutation_p.E726Q|UBTF_ENST00000527034.1_Missense_Mutation_p.K687N|UBTF_ENST00000393606.3_Missense_Mutation_p.E689Q|UBTF_ENST00000526094.1_Missense_Mutation_p.E689Q|UBTF_ENST00000533177.1_Missense_Mutation_p.E689Q|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.E689Q			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	726	Asp/Glu/Ser-rich (acidic).				chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		tcgtcatcCTCTTCATTCTGG	0.612																																						dbGAP											0													130.0	83.0	99.0					17																	42284729		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.2176G>C	17.37:g.42284729C>G	ENSP00000302640:p.Glu726Gln		A8K6R8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E726Q	ENST00000302904.4	37	c.2176	CCDS11480.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.88|12.88	2.070856|2.070856	0.36566|0.36566	.|.	.|.	ENSG00000108312|ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383|ENST00000527034	D;D;D;D;D;D;D|D	0.98419|0.98649	-4.92;-4.27;-4.92;-4.27;-4.92;-4.92;-4.27|-5.05	5.25|5.25	4.25|4.25	0.50352|0.50352	.|.	0.463335|.	0.18762|.	N|.	0.131863|.	D|D	0.96703|0.96703	0.8924|0.8924	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B|.	0.16603|.	0.018;0.01|.	B;B|.	0.20384|.	0.029;0.013|.	D|D	0.95495|0.95495	0.8572|0.8572	10|7	0.21014|0.44086	T|T	0.42|0.13	-10.6218|-10.6218	12.4275|12.4275	0.55556|0.55556	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	689;726|.	P17480-2;P17480|.	.;UBF1_HUMAN|.	Q|N	689;726;689;726;689;689;726|687	ENSP00000345297:E689Q;ENSP00000302640:E726Q;ENSP00000437180:E689Q;ENSP00000390669:E726Q;ENSP00000377231:E689Q;ENSP00000432925:E689Q;ENSP00000435708:E726Q|ENSP00000431539:K687N	ENSP00000302640:E726Q|ENSP00000431539:K687N	E|K	-|-	1|3	0|2	UBTF|UBTF	39640255|39640255	0.741000|0.741000	0.28217|0.28217	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.893000|1.893000	0.39758|0.39758	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	GAG|AAG	UBTF	-	NULL	ENSG00000108312		0.612	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	130	0.76	1	C	NM_014233		42284729	42284729	-1	no_errors	ENST00000302904	ensembl	human	known	69_37n	missense	57	50.86	59	SNP	0.999	G
UHRF1BP1L	23074	genome.wustl.edu	37	12	100451840	100451840	+	Frame_Shift_Del	DEL	G	G	-	rs550401137		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:100451840delG	ENST00000279907.7	-	14	3427	c.3215delC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTCTAACTGGGGGGGTCTC	0.373																																						dbGAP											0													70.0	75.0	74.0					12																	100451840		2200	4298	6498	-	-	-	SO:0001589	frameshift_variant	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3215delC	12.37:g.100451840delG	ENSP00000279907:p.Pro1072fs		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	NULL	p.P1072fs	ENST00000279907.7	37	c.3215	CCDS31882.1	12																																																																																			UHRF1BP1L	-	NULL	ENSG00000111647		0.373	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	32	0.00	0	G	NM_001006947		100451840	100451840	-1	no_errors	ENST00000279907	ensembl	human	known	69_37n	frame_shift_del	40	24.53	13	DEL	0.844	-
ULK4	54986	genome.wustl.edu	37	3	41795894	41795894	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:41795894C>G	ENST00000301831.4	-	22	2742	c.2280G>C	c.(2278-2280)ttG>ttC	p.L760F		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	760					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTTATAAATCAAAATATATA	0.383																																						dbGAP											0													109.0	104.0	105.0					3																	41795894		1834	4095	5929	-	-	-	SO:0001583	missense	0			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2280G>C	3.37:g.41795894C>G	ENSP00000301831:p.Leu760Phe		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L760F	ENST00000301831.4	37	c.2280	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603800	0.46423	.	.	ENSG00000168038	ENST00000301831	T	0.67345	-0.26	5.3	3.45	0.39498	Armadillo-like helical (1);Armadillo-type fold (2);	0.180733	0.34268	U	0.004101	T	0.72795	0.3505	L	0.54323	1.7	0.58432	D	0.999997	D	0.76494	0.999	D	0.68621	0.959	T	0.71148	-0.4677	10	0.66056	D	0.02	.	6.1308	0.20204	0.0:0.5557:0.2916:0.1527	.	760	Q96C45	ULK4_HUMAN	F	760	ENSP00000301831:L760F	ENSP00000301831:L760F	L	-	3	2	ULK4	41770898	0.960000	0.32886	0.040000	0.18447	0.702000	0.40608	0.121000	0.15667	0.562000	0.29204	0.591000	0.81541	TTG	ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.383	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	98	0.00	0	C	XM_929989		41795894	41795894	-1	no_errors	ENST00000301831	ensembl	human	known	69_37n	missense	43	46.91	38	SNP	0.706	G
UMODL1	89766	genome.wustl.edu	37	21	43524173	43524173	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr21:43524173G>A	ENST00000408910.2	+	9	1495	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	UMODL1_ENST00000400427.1_Missense_Mutation_p.D427N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D499N|C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000400424.2_Missense_Mutation_p.D427N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	499	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTTCCAGATTGACCGGCAGGG	0.612																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	dbGAP											0													64.0	66.0	65.0					21																	43524173		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1495G>A	21.37:g.43524173G>A	ENSP00000386147:p.Asp499Asn		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.D499N	ENST00000408910.2	37	c.1495	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728356	0.69074	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.77877	-1.13;-0.99;-1.12;-1.04	3.67	3.67	0.42095	.	0.000000	0.50627	D	0.000106	D	0.86485	0.5944	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.88061	0.2794	10	0.87932	D	0	-44.6284	13.3544	0.60619	0.0:0.0:1.0:0.0	.	427;499;499	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	N	427;427;499;499	ENSP00000383279:D427N;ENSP00000383276:D427N;ENSP00000386126:D499N;ENSP00000386147:D499N	ENSP00000383276:D427N	D	+	1	0	UMODL1	42397242	0.997000	0.39634	0.533000	0.28001	0.476000	0.33039	4.612000	0.61169	2.336000	0.79503	0.655000	0.94253	GAC	UMODL1	-	NULL	ENSG00000177398		0.612	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	53	0.00	0	G			43524173	43524173	+1	no_errors	ENST00000408989	ensembl	human	known	69_37n	missense	14	61.11	22	SNP	0.815	A
UNC13B	10497	genome.wustl.edu	37	9	35237784	35237784	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:35237784C>T	ENST00000378495.3	+	5	577	c.355C>T	c.(355-357)Cat>Tat	p.H119Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.H119Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.H119Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	119					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAACTCCTCATAAAATTTT	0.358																																						dbGAP											0													97.0	97.0	97.0					9																	35237784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.355C>T	9.37:g.35237784C>T	ENSP00000367756:p.His119Tyr		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.H119Y	ENST00000378495.3	37	c.355	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933275	0.92458	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	T;T;T	0.70869	-0.52;-0.52;-0.52	5.46	5.46	0.80206	C2 calcium/lipid-binding domain, CaLB (1);	0.174785	0.49916	D	0.000124	D	0.83820	0.5337	M	0.69523	2.12	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.995;0.997;0.982	D	0.83716	0.0190	10	0.54805	T	0.06	-11.9575	18.549	0.91057	0.0:1.0:0.0:0.0	.	119;119;119	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Y	119	ENSP00000380006:H119Y;ENSP00000367756:H119Y;ENSP00000367757:H119Y	ENSP00000367756:H119Y	H	+	1	0	UNC13B	35227784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	2.857000	0.98124	0.650000	0.86243	CAT	UNC13B	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000198722		0.358	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	105	0.00	0	C	NM_006377		35237784	35237784	+1	no_errors	ENST00000396787	ensembl	human	known	69_37n	missense	72	35.71	40	SNP	1.000	T
UNCX	340260	genome.wustl.edu	37	7	1275500	1275500	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:1275500G>A	ENST00000316333.8	+	3	594	c.483G>A	c.(481-483)agG>agA	p.R161R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	161					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCAAGTGGAGGAAGAAGGAGA	0.692																																						dbGAP											0													16.0	22.0	20.0					7																	1275500		2188	4294	6482	-	-	-	SO:0001819	synonymous_variant	0				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.483G>A	7.37:g.1275500G>A			A4D221	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R161	ENST00000316333.8	37	c.483	CCDS34583.1	7																																																																																			UNCX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000164853		0.692	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	20	0.00	0	G	NM_001080461		1275500	1275500	+1	no_errors	ENST00000316333	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	1.000	A
UNK	85451	genome.wustl.edu	37	17	73818686	73818686	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr17:73818686G>A	ENST00000589666.1	+	14	2076	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	UNK_ENST00000293218.3_Missense_Mutation_p.E732K|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	656							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCTGGATGAAGCCAACAG	0.647																																						dbGAP											0													46.0	53.0	51.0					17																	73818686		2043	4182	6225	-	-	-	SO:0001583	missense	0			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1966G>A	17.37:g.73818686G>A	ENSP00000464893:p.Glu656Lys			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E732K	ENST00000589666.1	37	c.2194	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	32	5.121349	0.94385	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.70595	2.14	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.79181	-0.1909	9	0.51188	T	0.08	-14.085	17.9634	0.89092	0.0:0.0:1.0:0.0	.	656	Q9C0B0	UNK_HUMAN	K	732	.	ENSP00000293218:E732K	E	+	1	0	UNK	71330281	1.000000	0.71417	0.945000	0.38365	0.988000	0.76386	7.327000	0.79147	2.470000	0.83445	0.591000	0.81541	GAA	UNK	-	NULL	ENSG00000132478		0.647	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	65	0.00	0	G	NM_001080419		73818686	73818686	+1	no_errors	ENST00000293218	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	1.000	A
UPF2	26019	genome.wustl.edu	37	10	12071427	12071427	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr10:12071427G>A	ENST00000356352.2	-	2	935	c.462C>T	c.(460-462)agC>agT	p.S154S	UPF2_ENST00000357604.5_Silent_p.S154S|UPF2_ENST00000397053.2_Silent_p.S154S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	154					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTCTGGTCGGCTGTCCGGAG	0.398																																						dbGAP											0													96.0	106.0	103.0					10																	12071427		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.462C>T	10.37:g.12071427G>A			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.S154	ENST00000356352.2	37	c.462	CCDS7086.1	10																																																																																			UPF2	-	NULL	ENSG00000151461		0.398	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	16	0.00	0	G			12071427	12071427	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	1.000	A
UPK3A	7380	genome.wustl.edu	37	22	45689105	45689105	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr22:45689105C>T	ENST00000216211.4	+	5	647	c.615C>T	c.(613-615)agC>agT	p.S205S	UPK3A_ENST00000396082.2_Silent_p.S84S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	205					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCGGCGGAGCGGAGGCATGA	0.607																																						dbGAP											0													151.0	103.0	120.0					22																	45689105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.615C>T	22.37:g.45689105C>T			B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	NULL	p.S205	ENST00000216211.4	37	c.615	CCDS14064.1	22																																																																																			UPK3A	-	NULL	ENSG00000100373		0.607	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UPK3A	HGNC	protein_coding	OTTHUMT00000322276.1	102	0.00	0	C	NM_006953		45689105	45689105	+1	no_errors	ENST00000216211	ensembl	human	known	69_37n	silent	38	41.54	27	SNP	0.984	T
USH2A	7399	genome.wustl.edu	37	1	216370014	216370014	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:216370014G>C	ENST00000307340.3	-	19	4518	c.4132C>G	c.(4132-4134)Ctc>Gtc	p.L1378V	USH2A_ENST00000366942.3_Missense_Mutation_p.L1378V|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L1378V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1378	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1378V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGATATTGAGAGAGTACGAA	0.403										HNSCC(13;0.011)																												dbGAP											1	Substitution - Missense(1)	lung(1)											137.0	129.0	132.0					1																	216370014		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4132C>G	1.37:g.216370014G>C	ENSP00000305941:p.Leu1378Val		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L1378V	ENST00000307340.3	37	c.4132	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096529	0.56075	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.59224	0.28;0.28;0.28	5.96	4.07	0.47477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.35708	N	0.003024	T	0.59622	0.2207	M	0.67625	2.065	0.46356	D	0.999004	P;P	0.52692	0.955;0.905	P;P	0.51453	0.548;0.67	T	0.58521	-0.7622	10	0.10111	T	0.7	.	10.6794	0.45804	0.0695:0.1303:0.8002:0.0	.	1378;1378	O75445-2;O75445	.;USH2A_HUMAN	V	1378	ENSP00000305941:L1378V;ENSP00000355910:L1378V;ENSP00000355909:L1378V	ENSP00000305941:L1378V	L	-	1	0	USH2A	214436637	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	3.414000	0.52693	1.515000	0.48885	-0.175000	0.13238	CTC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	141	0.00	0	G	NM_007123		216370014	216370014	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	171	26.29	61	SNP	0.999	C
URB2	9816	genome.wustl.edu	37	1	229773599	229773599	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:229773599C>A	ENST00000258243.2	+	4	3375	c.3239C>A	c.(3238-3240)gCc>gAc	p.A1080D		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1080						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGCCAAGAGGCCCCAGCAGCA	0.627																																						dbGAP											0													39.0	43.0	42.0					1																	229773599		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3239C>A	1.37:g.229773599C>A	ENSP00000258243:p.Ala1080Asp		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.A1080D	ENST00000258243.2	37	c.3239	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564991	0.27915	.	.	ENSG00000135763	ENST00000258243	T	0.32272	1.46	5.65	3.76	0.43208	.	0.544697	0.18763	N	0.131823	T	0.19208	0.0461	L	0.29908	0.895	0.09310	N	1	P	0.34462	0.454	B	0.32677	0.15	T	0.10497	-1.0627	9	.	.	.	-9.0744	7.1608	0.25662	0.0:0.666:0.1311:0.2028	.	1080	Q14146	URB2_HUMAN	D	1080	ENSP00000258243:A1080D	.	A	+	2	0	URB2	227840222	0.028000	0.19301	0.008000	0.14137	0.075000	0.17131	0.748000	0.26305	1.545000	0.49373	0.585000	0.79938	GCC	URB2	-	NULL	ENSG00000135763		0.627	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	38	0.00	0	C	NM_014777		229773599	229773599	+1	no_errors	ENST00000258243	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	0.001	A
USP45	85015	genome.wustl.edu	37	6	99956518	99956518	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:99956518C>G	ENST00000327681.6	-	3	773	c.241G>C	c.(241-243)Gat>Cat	p.D81H	USP45_ENST00000472914.2_Missense_Mutation_p.D81H|USP45_ENST00000329966.6_Missense_Mutation_p.D81H|USP45_ENST00000369233.2_Missense_Mutation_p.D81H|USP45_ENST00000369231.3_Missense_Mutation_p.D81H|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.D81H|USP45_ENST00000369232.2_5'UTR	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	81					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AACCAAATATCAGAAGTAAGT	0.358																																						dbGAP											0													111.0	109.0	109.0					6																	99956518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.241G>C	6.37:g.99956518C>G	ENSP00000333376:p.Asp81His		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.D81H	ENST00000327681.6	37	c.241	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990755	0.74589	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914;ENST00000369231	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.049868	0.85682	D	0.000000	T	0.58892	0.2154	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.963;0.99	T	0.60530	-0.7245	10	0.54805	T	0.06	.	18.6434	0.91402	0.0:1.0:0.0:0.0	.	81;81	D6RBV3;Q70EL2	.;UBP45_HUMAN	H	81	ENSP00000424372:D81H;ENSP00000333376:D81H;ENSP00000358236:D81H;ENSP00000330540:D81H;ENSP00000423993:D81H;ENSP00000358234:D81H	ENSP00000333376:D81H	D	-	1	0	USP45	100063239	1.000000	0.71417	0.343000	0.25615	0.801000	0.45260	7.010000	0.76353	2.518000	0.84900	0.491000	0.48974	GAT	USP45	-	pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP	ENSG00000123552		0.358	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	127	0.00	0	C	NM_032929		99956518	99956518	-1	no_errors	ENST00000327681	ensembl	human	known	69_37n	missense	38	69.35	86	SNP	1.000	G
UTP15	84135	genome.wustl.edu	37	5	72865429	72865429	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:72865429C>T	ENST00000296792.4	+	5	731	c.476C>T	c.(475-477)aCa>aTa	p.T159I	UTP15_ENST00000508491.1_Missense_Mutation_p.T140I|UTP15_ENST00000543251.1_5'UTR	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	159					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		GAAATTTTGACATTTAAAGAA	0.378																																						dbGAP											0													109.0	115.0	113.0					5																	72865429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.476C>T	5.37:g.72865429C>T	ENSP00000296792:p.Thr159Ile		B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T159I	ENST00000296792.4	37	c.476	CCDS34186.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.45|16.45	3.126629|3.126629	0.56721|0.56721	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000509005|ENST00000296792;ENST00000508491	.|T;T	.|0.61158	.|0.13;0.13	5.91|5.91	5.01|5.01	0.66863|0.66863	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.341955	.|0.34291	.|N	.|0.004086	T|T	0.60130|0.60130	0.2245|0.2245	M|M	0.73217|0.73217	2.22|2.22	0.46874|0.46874	D|D	0.999239|0.999239	.|P;P	.|0.49696	.|0.927;0.873	.|P;B	.|0.46629	.|0.522;0.419	T|T	0.62812|0.62812	-0.6775|-0.6775	5|10	.|0.48119	.|T	.|0.1	.|.	9.8366|9.8366	0.40973|0.40973	0.0:0.7876:0.1372:0.0751|0.0:0.7876:0.1372:0.0751	.|.	.|140;159	.|B4DXK8;Q8TED0	.|.;UTP15_HUMAN	Y|I	186|159;140	.|ENSP00000296792:T159I;ENSP00000424609:T140I	.|ENSP00000296792:T159I	H|T	+|+	1|2	0|0	UTP15|UTP15	72901185|72901185	0.846000|0.846000	0.29590|0.29590	0.996000|0.996000	0.52242|0.52242	0.942000|0.942000	0.58702|0.58702	2.366000|2.366000	0.44204|0.44204	1.434000|1.434000	0.47414|0.47414	0.655000|0.655000	0.94253|0.94253	CAT|ACA	UTP15	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000164338		0.378	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP15	HGNC	protein_coding	OTTHUMT00000368965.1	141	0.00	0	C	NM_032175		72865429	72865429	+1	no_errors	ENST00000296792	ensembl	human	known	69_37n	missense	122	28.24	48	SNP	0.206	T
VASH2	79805	genome.wustl.edu	37	1	213146162	213146162	+	Silent	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:213146162C>G	ENST00000517399.1	+	5	738	c.738C>G	c.(736-738)gtC>gtG	p.V246V	VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366968.4_Silent_p.V181V|VASH2_ENST00000366965.2_Silent_p.V202V|VASH2_ENST00000366964.3_Silent_p.V104V|VASH2_ENST00000366966.2_Silent_p.V181V|VASH2_ENST00000366967.2_Silent_p.V142V			Q86V25	VASH2_HUMAN	vasohibin 2	246					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TCAAGAAGGTCAAGATTGGGC	0.493																																						dbGAP											0													120.0	106.0	111.0					1																	213146162		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.738C>G	1.37:g.213146162C>G			B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	NULL	p.V246	ENST00000517399.1	37	c.738	CCDS1511.1	1																																																																																			VASH2	-	NULL	ENSG00000143494		0.493	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH2	HGNC	protein_coding	OTTHUMT00000381686.1	97	0.00	0	C	NM_024749		213146162	213146162	+1	no_errors	ENST00000517399	ensembl	human	known	69_37n	silent	88	48.54	83	SNP	1.000	G
VCPIP1	80124	genome.wustl.edu	37	8	67578719	67578719	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr8:67578719C>G	ENST00000310421.4	-	1	733	c.475G>C	c.(475-477)Gat>Cat	p.D159H	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	159					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGGCGCAATCGAACAGTTCG	0.542																																					NSCLC(179;265 2915 6144 43644)	dbGAP											0													117.0	105.0	109.0					8																	67578719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.475G>C	8.37:g.67578719C>G	ENSP00000309031:p.Asp159His		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D159H	ENST00000310421.4	37	c.475	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946614	0.73672	.	.	ENSG00000175073	ENST00000310421	T	0.46451	0.87	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65051	-0.6262	10	0.87932	D	0	-17.4863	20.422	0.99049	0.0:1.0:0.0:0.0	.	159	Q96JH7	VCIP1_HUMAN	H	159	ENSP00000309031:D159H	ENSP00000309031:D159H	D	-	1	0	VCPIP1	67741273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.832000	0.97577	0.655000	0.94253	GAT	VCPIP1	-	NULL	ENSG00000175073		0.542	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	46	0.00	0	C			67578719	67578719	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	missense	16	60.98	25	SNP	1.000	G
VPS13A	23230	genome.wustl.edu	37	9	79836219	79836219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:79836219delA	ENST00000360280.3	+	13	1368	c.1108delA	c.(1108-1110)aaafs	p.K372fs	VPS13A_ENST00000376636.3_Frame_Shift_Del_p.K372fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.K372fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.K372fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	372					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAACTGTATAAAAAAAAGTT	0.353																																						dbGAP											0													101.0	102.0	102.0					9																	79836219		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1108delA	9.37:g.79836219delA	ENSP00000353422:p.Lys372fs		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	pfam_VPSAP,pfam_Autophagy-rel_C	p.K372fs	ENST00000360280.3	37	c.1108	CCDS6655.1	9																																																																																			VPS13A	-	NULL	ENSG00000197969		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	143	0.00	0	A	NM_015186		79836219	79836219	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	frame_shift_del	126	29.05	52	DEL	1.000	-
VPS13A	23230	genome.wustl.edu	37	9	79898501	79898501	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:79898501G>C	ENST00000360280.3	+	31	3534	c.3274G>C	c.(3274-3276)Gaa>Caa	p.E1092Q	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1053Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.E1092Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1092Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1092					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCAGAAACTGAAATAAACGC	0.284																																						dbGAP											0													49.0	52.0	51.0					9																	79898501		2202	4292	6494	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3274G>C	9.37:g.79898501G>C	ENSP00000353422:p.Glu1092Gln		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E1092Q	ENST00000360280.3	37	c.3274	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064196	0.55432	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50813	0.94;0.73;0.85;0.94	5.74	4.83	0.62350	.	0.062186	0.64402	N	0.000006	T	0.58004	0.2092	L	0.54323	1.7	0.80722	D	1	P;D;D;D	0.76494	0.57;0.998;0.999;0.999	B;P;D;D	0.67382	0.372;0.906;0.951;0.951	T	0.53954	-0.8365	10	0.16420	T	0.52	.	11.7558	0.51874	0.0681:0.1242:0.8077:0.0	.	1053;1092;1092;1092	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	1092;1053;1092;1092	ENSP00000365821:E1092Q;ENSP00000365823:E1053Q;ENSP00000353422:E1092Q;ENSP00000349985:E1092Q	ENSP00000349985:E1092Q	E	+	1	0	VPS13A	79088321	1.000000	0.71417	0.888000	0.34837	0.996000	0.88848	4.546000	0.60705	1.381000	0.46364	0.650000	0.86243	GAA	VPS13A	-	NULL	ENSG00000197969		0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	65	0.00	0	G	NM_015186		79898501	79898501	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	58	37.63	35	SNP	0.993	C
VPS45	11311	genome.wustl.edu	37	1	150054064	150054064	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:150054064A>G	ENST00000369130.3	+	9	1467	c.921A>G	c.(919-921)tcA>tcG	p.S307S	VPS45_ENST00000369128.5_Silent_p.S202S|VPS45_ENST00000535106.1_Silent_p.S238S	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	307					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTAGAATCAATAGCAGACA	0.343																																						dbGAP											0													61.0	59.0	60.0					1																	150054064		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.921A>G	1.37:g.150054064A>G			D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.S307	ENST00000369130.3	37	c.921	CCDS944.1	1																																																																																			VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.343	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	81	0.00	0	A	NM_007259		150054064	150054064	+1	no_errors	ENST00000369130	ensembl	human	known	69_37n	silent	68	38.74	43	SNP	1.000	G
VPS54	51542	genome.wustl.edu	37	2	64160970	64160970	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:64160970C>T	ENST00000272322.4	-	12	1730	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	VPS54_ENST00000409558.4_Missense_Mutation_p.E514K|VPS54_ENST00000354504.3_Missense_Mutation_p.E373K			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	526				E -> K (in Ref. 1; AAF37319). {ECO:0000305}.	growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GGTGTTAGCTCACCCTCACCG	0.428																																						dbGAP											0													172.0	143.0	153.0					2																	64160970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1576G>A	2.37:g.64160970C>T	ENSP00000272322:p.Glu526Lys		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.E526K	ENST00000272322.4	37	c.1576	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182967	0.57800	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.32988	1.43;1.46;1.46	5.27	5.27	0.74061	.	0.165123	0.53938	D	0.000049	T	0.26774	0.0655	L	0.38531	1.155	0.58432	D	0.999999	B;B;B	0.23249	0.082;0.062;0.082	B;B;B	0.25140	0.036;0.036;0.058	T	0.07693	-1.0759	10	0.10111	T	0.7	.	18.8876	0.92385	0.0:1.0:0.0:0.0	.	373;526;514	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	K	373;526;514;514;526	ENSP00000346499:E373K;ENSP00000272322:E526K;ENSP00000386980:E514K	ENSP00000272322:E526K	E	-	1	0	VPS54	64014474	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	4.395000	0.59678	2.459000	0.83118	0.563000	0.77884	GAG	VPS54	-	NULL	ENSG00000143952		0.428	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	134	0.00	0	C	NM_016516		64160970	64160970	-1	no_errors	ENST00000272322	ensembl	human	known	69_37n	missense	102	32.45	49	SNP	1.000	T
VSIG10	54621	genome.wustl.edu	37	12	118517245	118517245	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr12:118517245C>T	ENST00000359236.5	-	4	1107	c.831G>A	c.(829-831)ctG>ctA	p.L277L	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	277	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGGACTCGCTCAGCATTTCCA	0.567																																						dbGAP											0													108.0	114.0	112.0					12																	118517245		2082	4216	6298	-	-	-	SO:0001819	synonymous_variant	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.831G>A	12.37:g.118517245C>T			Q9NWQ7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L277	ENST00000359236.5	37	c.831	CCDS44992.1	12																																																																																			VSIG10	-	pfscan_Ig-like	ENSG00000176834		0.567	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	155	0.00	0	C	NM_019086		118517245	118517245	-1	no_errors	ENST00000359236	ensembl	human	known	69_37n	silent	91	29.46	38	SNP	0.990	T
WDR60	55112	genome.wustl.edu	37	7	158715127	158715127	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:158715127C>A	ENST00000407559.3	+	16	2139	c.1981C>A	c.(1981-1983)Cac>Aac	p.H661N		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	661					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GGTCTCCGTTCACGACTTACC	0.502																																						dbGAP											0													122.0	117.0	119.0					7																	158715127		2002	4176	6178	-	-	-	SO:0001583	missense	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1981C>A	7.37:g.158715127C>A	ENSP00000384290:p.His661Asn		Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.H661N	ENST00000407559.3	37	c.1981	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866739	0.51588	.	.	ENSG00000126870	ENST00000407559	T	0.64991	-0.13	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.948	D	0.83996	0.0340	10	0.72032	D	0.01	-23.5245	16.5137	0.84293	0.0:1.0:0.0:0.0	.	144;661	A4D230;Q8WVS4	.;WDR60_HUMAN	N	661	ENSP00000384290:H661N	ENSP00000384290:H661N	H	+	1	0	WDR60	158407888	1.000000	0.71417	0.206000	0.23566	0.009000	0.06853	5.797000	0.69087	2.474000	0.83562	0.591000	0.81541	CAC	WDR60	-	superfamily_WD40_repeat_dom	ENSG00000126870		0.502	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	132	0.00	0	C	NM_018051		158715127	158715127	+1	no_errors	ENST00000407559	ensembl	human	known	69_37n	missense	107	31.41	49	SNP	0.997	A
WDR64	128025	genome.wustl.edu	37	1	241959640	241959642	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:241959640_241959642delAAG	ENST00000366552.2	+	26	3337_3339	c.3130_3132delAAG	c.(3130-3132)aagdel	p.K1046del	WDR64_ENST00000437684.2_In_Frame_Del_p.K879del	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1046										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATTACAGGAAAGAAGAAGGGAG	0.374																																						dbGAP											0										2,4264		0,2,2131						-0.1	0.2			96	0,8254		0,0,4127	no	coding	WDR64	NM_144625.4		0,2,6258	A1A1,A1R,RR		0.0,0.0469,0.016				2,12518				-	-	-	SO:0001651	inframe_deletion	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3130_3132delAAG	1.37:g.241959646_241959648delAAG	ENSP00000355510:p.Lys1046del		B1ANT0|Q7Z573|Q96LY9	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1046in_frame_del	ENST00000366552.2	37	c.3130_3132		1																																																																																			WDR64	-	NULL	ENSG00000162843		0.374	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		76	0.00	0	AAG	NM_144625		241959640	241959642	+1	no_errors	ENST00000366552	ensembl	human	known	69_37n	in_frame_del	123	20.13	31	DEL	0.882:0.909:0.922	-
WDR87	83889	genome.wustl.edu	37	19	38377679	38377679	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:38377679G>C	ENST00000303868.5	-	6	6739	c.6515C>G	c.(6514-6516)tCa>tGa	p.S2172*	WDR87_ENST00000447313.2_Nonsense_Mutation_p.S2211*	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2172	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TATGACTTCTGAATGCTTTCT	0.418																																						dbGAP											0													165.0	116.0	131.0					19																	38377679		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6515C>G	19.37:g.38377679G>C	ENSP00000368025:p.Ser2172*		Q9BWV9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2211*	ENST00000303868.5	37	c.6632	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	44	10.752979	0.99461	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	.	.	.	4.05	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	7.026	0.24940	0.0:0.1725:0.3175:0.5101	.	.	.	.	X	2211;2172	.	ENSP00000368025:S2172X	S	-	2	0	WDR87	43069519	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.235000	0.02928	-1.055000	0.03209	0.289000	0.19496	TCA	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.418	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	197	0.00	0	G	XM_940478		38377679	38377679	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	nonsense	167	33.98	87	SNP	0.000	C
WNT8A	7478	genome.wustl.edu	37	5	137426381	137426381	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:137426381G>A	ENST00000398754.1	+	6	680	c.675G>A	c.(673-675)ctG>ctA	p.L225L	WNT8A_ENST00000506684.1_Silent_p.L243L	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	225					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCGGCAGCTGAGAGCTGGGA	0.552																																						dbGAP											0													44.0	48.0	47.0					5																	137426381		1948	4146	6094	-	-	-	SO:0001819	synonymous_variant	0			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.675G>A	5.37:g.137426381G>A			Q96S51	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.L225	ENST00000398754.1	37	c.675	CCDS43368.1	5																																																																																			WNT8A	-	pfam_Wnt,smart_Wnt	ENSG00000061492		0.552	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8A	HGNC	protein_coding	OTTHUMT00000280395.1	45	0.00	0	G	NM_058244		137426381	137426381	+1	no_errors	ENST00000361560	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.055	A
WWC1	23286	genome.wustl.edu	37	5	167851016	167851016	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:167851016G>A	ENST00000265293.4	+	11	2255	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	WWC1_ENST00000521089.1_Missense_Mutation_p.A585T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	585					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGTAACAGCGCCCAGGAAAG	0.597																																						dbGAP											0													53.0	58.0	56.0					5																	167851016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1753G>A	5.37:g.167851016G>A	ENSP00000265293:p.Ala585Thr		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.A585T	ENST00000265293.4	37	c.1753	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.611|6.611	0.481142|0.481142	0.12581|0.12581	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.15952|.	2.38;2.38|.	4.27|4.27	-1.37|-1.37	0.09056|0.09056	.|.	1.047900|.	0.07494|.	N|.	0.906158|.	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.001;0.0|.	T|T	0.28586|0.28586	-1.0039|-1.0039	10|5	0.13108|.	T|.	0.6|.	.|.	5.6727|5.6727	0.17731|0.17731	0.2568:0.3499:0.3932:0.0|0.2568:0.3499:0.3932:0.0	.|.	585;491;491;585|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	T|H	585|546;361	ENSP00000265293:A585T;ENSP00000427772:A585T|.	ENSP00000265293:A585T|.	A|R	+|+	1|2	0|0	WWC1|WWC1	167783594|167783594	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.334000|0.334000	0.28698|0.28698	-0.109000|-0.109000	0.10840|0.10840	-0.401000|-0.401000	0.07644|0.07644	-0.238000|-0.238000	0.12139|0.12139	GCC|CGC	WWC1	-	NULL	ENSG00000113645		0.597	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	30	0.00	0	G	NM_015238		167851016	167851016	+1	no_errors	ENST00000265293	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.000	A
WWP2	11060	genome.wustl.edu	37	16	69874100	69874100	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:69874100A>T	ENST00000359154.2	+	5	513	c.412A>T	c.(412-414)Aca>Tca	p.T138S	WWP2_ENST00000356003.2_Missense_Mutation_p.T138S|WWP2_ENST00000542271.1_Missense_Mutation_p.T22S|WWP2_ENST00000569174.1_Missense_Mutation_p.T138S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.T138S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	138					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|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)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGAGAGCTGACAATTTTCCT	0.567																																						dbGAP											0													120.0	98.0	106.0					16																	69874100		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.412A>T	16.37:g.69874100A>T	ENSP00000352069:p.Thr138Ser		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.T138S	ENST00000359154.2	37	c.412	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542440	0.45280	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.67523	-0.27;-0.27;-0.27;1.57	5.37	5.37	0.77165	C2 calcium/lipid-binding domain, CaLB (1);	0.055389	0.64402	D	0.000001	T	0.50222	0.1603	N	0.20845	0.615	0.42849	D	0.994079	B	0.22003	0.063	B	0.19666	0.026	T	0.46638	-0.9177	9	.	.	.	.	13.1034	0.59233	1.0:0.0:0.0:0.0	.	138	O00308	WWP2_HUMAN	S	138;138;138;25;22	ENSP00000352069:T138S;ENSP00000396871:T138S;ENSP00000348283:T138S;ENSP00000445616:T22S	.	T	+	1	0	WWP2	68431601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.136000	0.89610	2.032000	0.59987	0.533000	0.62120	ACA	WWP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000198373		0.567	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	62	0.00	0	A	NM_007014		69874100	69874100	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	missense	13	64.10	25	SNP	1.000	T
XPC	7508	genome.wustl.edu	37	3	14208754	14208754	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:14208754C>T	ENST00000285021.7	-	5	751		c.e5-1		XPC_ENST00000449060.2_Splice_Site	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C						DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATCTTTTCACTGCAACAAAT	0.458			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													80.0	75.0	76.0					3																	14208754		1872	4106	5978	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.537-1G>A	3.37:g.14208754C>T			B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	SNP	-	e5-1	ENST00000285021.7	37	c.537-1	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360264	0.24598	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0985	0.89498	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XPC	14183758	1.000000	0.71417	0.516000	0.27786	0.160000	0.22226	6.520000	0.73773	2.583000	0.87209	0.467000	0.42956	.	XPC	-	-	ENSG00000154767		0.458	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	115	0.00	0	C	NM_004628	Intron	14208754	14208754	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	splice_site	68	20.00	17	SNP	1.000	T
XPO4	64328	genome.wustl.edu	37	13	21395842	21395842	+	Splice_Site	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr13:21395842C>A	ENST00000255305.6	-	9	1245		c.e9+1		XPO4_ENST00000400602.2_Splice_Site			Q9C0E2	XPO4_HUMAN	exportin 4						positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAGTCACTCACCACTTCTTCC	0.393																																						dbGAP											0													93.0	89.0	90.0					13																	21395842		1921	4141	6062	-	-	-	SO:0001630	splice_region_variant	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1173+1G>T	13.37:g.21395842C>A			Q5VUZ5|Q8N3V6|Q9H934	Splice_Site	SNP	-	e9+1	ENST00000255305.6	37	c.1173+1	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487884	0.84854	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5961	0.95538	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XPO4	20293842	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.443000	0.80521	2.630000	0.89119	0.563000	0.77884	.	XPO4	-	-	ENSG00000132953		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	117	0.00	0	C	NM_022459	Intron	21395842	21395842	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	splice_site	60	46.43	52	SNP	1.000	A
YAP1	10413	genome.wustl.edu	37	11	102076658	102076658	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr11:102076658G>A	ENST00000282441.5	+	5	1225	c.837G>A	c.(835-837)gtG>gtA	p.V279V	YAP1_ENST00000345877.2_Silent_p.V241V|YAP1_ENST00000524575.1_Silent_p.V101V|YAP1_ENST00000531439.1_Silent_p.V279V|YAP1_ENST00000537274.1_Silent_p.V279V|YAP1_ENST00000526343.1_Silent_p.V241V	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	279					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GTGCTCCAGTGAAACAGCCAC	0.478																																					Colon(50;247 1103 7861 28956)	dbGAP											0													39.0	45.0	43.0					11																	102076658		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.837G>A	11.37:g.102076658G>A			B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.V279	ENST00000282441.5	37	c.837	CCDS44716.1	11																																																																																			YAP1	-	NULL	ENSG00000137693		0.478	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	30	0.00	0	G	NM_006106		102076658	102076658	+1	no_errors	ENST00000282441	ensembl	human	known	69_37n	silent	10	58.33	14	SNP	0.995	A
YEATS2	55689	genome.wustl.edu	37	3	183525829	183525829	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:183525829C>T	ENST00000305135.5	+	29	4218	c.4023C>T	c.(4021-4023)acC>acT	p.T1341T	YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000609871.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1341					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGGGATCACCCTGCAGCCCG	0.562																																						dbGAP											0													47.0	50.0	49.0					3																	183525829		2012	4165	6177	-	-	-	SO:0001819	synonymous_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.4023C>T	3.37:g.183525829C>T			A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.T1341	ENST00000305135.5	37	c.4023	CCDS43175.1	3																																																																																			YEATS2	-	NULL	ENSG00000163872		0.562	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	69	0.00	0	C	NM_018023		183525829	183525829	+1	no_errors	ENST00000305135	ensembl	human	known	69_37n	silent	23	54.90	28	SNP	0.891	T
YPEL5	51646	genome.wustl.edu	37	2	30379522	30379522	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:30379522G>A	ENST00000379520.3	+	4	509	c.5G>A	c.(4-6)gGc>gAc	p.G2D	YPEL5_ENST00000402003.3_Missense_Mutation_p.G2D|YPEL5_ENST00000402708.1_Missense_Mutation_p.G2D|YPEL5_ENST00000261353.4_Missense_Mutation_p.G2D|YPEL5_ENST00000379519.3_Missense_Mutation_p.G2D|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	2										NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					ATAAAAATGGGCAGAATTTTC	0.408																																						dbGAP											0													135.0	137.0	136.0					2																	30379522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.5G>A	2.37:g.30379522G>A	ENSP00000368835:p.Gly2Asp		D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Missense_Mutation	SNP	pfam_Yippee	p.G2D	ENST00000379520.3	37	c.5	CCDS1771.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.215392	0.95104	.	.	ENSG00000119801	ENST00000379520;ENST00000379519;ENST00000261353;ENST00000402003;ENST00000402708	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92309	0.5856	9	0.87932	D	0	-1.5867	19.2287	0.93829	0.0:0.0:1.0:0.0	.	2	P62699	YPEL5_HUMAN	D	2	.	ENSP00000261353:G2D	G	+	2	0	YPEL5	30233026	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.797000	0.96272	0.561000	0.74099	GGC	YPEL5	-	pfam_Yippee	ENSG00000119801		0.408	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YPEL5	HGNC	protein_coding	OTTHUMT00000215128.1	98	0.00	0	G	NM_016061		30379522	30379522	+1	no_errors	ENST00000261353	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	1.000	A
YTHDC2	64848	genome.wustl.edu	37	5	112889355	112889355	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr5:112889355G>A	ENST00000161863.4	+	14	2149	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D646N	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	646	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCTGTTTGATGACAAGCGGTT	0.368																																						dbGAP											0													148.0	146.0	147.0					5																	112889355		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1936G>A	5.37:g.112889355G>A	ENSP00000161863:p.Asp646Asn		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D646N	ENST00000161863.4	37	c.1936	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245997	0.80024	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.07327	4.23;3.2	5.38	5.38	0.77491	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	N	0.21508	0.67	0.46222	D	0.998939	P	0.50710	0.938	P	0.49528	0.614	T	0.27020	-1.0086	10	0.25106	T	0.35	.	19.1064	0.93296	0.0:0.0:1.0:0.0	.	646	Q9H6S0	YTDC2_HUMAN	N	646;646;556	ENSP00000161863:D646N;ENSP00000423101:D646N	ENSP00000161863:D646N	D	+	1	0	YTHDC2	112917254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.495000	0.84180	0.650000	0.86243	GAC	YTHDC2	-	smart_Helicase_C,pfscan_Helicase_C	ENSG00000047188		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	135	0.00	0	G	NM_022828		112889355	112889355	+1	no_errors	ENST00000161863	ensembl	human	known	69_37n	missense	149	27.67	57	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100336212	100336212	+	RNA	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:100336212G>C	ENST00000348028.3	+	0	907				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGTGGGGCCTGATGGCGACTT	0.572																																						dbGAP											0													45.0	45.0	45.0					7																	100336212		1988	3951	5939	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100336212G>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.D248H	ENST00000348028.3	37	c.742		7	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958306	0.53400	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02280	4.36;4.36;4.36	4.87	-1.99	0.07457	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	2.160970	0.02302	N	0.071326	T	0.02929	0.0087	N	0.24115	0.695	0.09310	N	0.999998	P;P	0.47302	0.869;0.893	P;P	0.49708	0.485;0.62	T	0.22034	-1.0228	10	0.87932	D	0	.	1.4624	0.02398	0.2488:0.2854:0.336:0.1297	.	248;248	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	248	ENSP00000445943:D248H;ENSP00000445091:D248H;ENSP00000444427:D248H	ENSP00000423579:D248H	D	+	1	0	ZAN	100174148	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.710000	0.05024	-0.515000	0.06479	-0.258000	0.10820	GAT	ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000146839		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	43	0.00	0	G	NM_003386		100336212	100336212	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	0.001	C
ZAP70	7535	genome.wustl.edu	37	2	98351824	98351824	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:98351824C>T	ENST00000264972.5	+	10	1409	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.I91I|ZAP70_ENST00000442208.1_Silent_p.I272I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACCCCTACATCGTGCGGCTCA	0.632																																						dbGAP											0													154.0	134.0	141.0					2																	98351824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1194C>T	2.37:g.98351824C>T			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.I398	ENST00000264972.5	37	c.1194	CCDS33254.1	2																																																																																			ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom	ENSG00000115085		0.632	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	61	0.00	0	C			98351824	98351824	+1	no_errors	ENST00000264972	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	0.997	T
ZBTB7C	201501	genome.wustl.edu	37	18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-	rs115080210		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr18:45567085delC	ENST00000588982.1	-	3	895	c.394delG	c.(394-396)gacfs	p.D132fs	ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.D132fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcccccccgtcccccCCAGGC	0.582																																						dbGAP											0													135.0	94.0	108.0					18																	45567085		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.394delG	18.37:g.45567085delC	ENSP00000468782:p.Asp132fs		O73453	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D132fs	ENST00000588982.1	37	c.394	CCDS32830.1	18																																																																																			ZBTB7C	-	NULL	ENSG00000184828		0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	189	0.00	0	C	NM_001039360		45567085	45567085	-1	no_errors	ENST00000332053	ensembl	human	known	69_37n	frame_shift_del	80	37.68	52	DEL	0.050	-
ZC3H7A	29066	genome.wustl.edu	37	16	11868840	11868840	+	Silent	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:11868840C>T	ENST00000396516.2	-	7	812	c.615G>A	c.(613-615)gaG>gaA	p.E205E	ZC3H7A_ENST00000355758.4_Silent_p.E205E|ZC3H7A_ENST00000575170.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	205						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ACATACCTGGCTCAATATCTT	0.338																																						dbGAP											0													85.0	83.0	84.0					16																	11868840		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.615G>A	16.37:g.11868840C>T			D3DUG5|Q9NPE9	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E205	ENST00000396516.2	37	c.615	CCDS10550.1	16																																																																																			ZC3H7A	-	NULL	ENSG00000122299		0.338	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	61	0.00	0	C	NM_014153		11868840	11868840	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	silent	54	24.66	18	SNP	0.976	T
ZC3HC1	51530	genome.wustl.edu	37	7	129680797	129680797	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:129680797C>G	ENST00000358303.4	-	3	487	c.403G>C	c.(403-405)Gac>Cac	p.D135H	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.D135H|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.D114H|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.D135H	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	135					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TTACATCTGTCAAAGTCAAAA	0.393																																					Melanoma(115;540 1606 16325 28853 48167)	dbGAP											0													125.0	128.0	127.0					7																	129680797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.403G>C	7.37:g.129680797C>G	ENSP00000351052:p.Asp135His		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.D135H	ENST00000358303.4	37	c.403	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398975	0.42512	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.49720	1.36;0.77;1.36;0.77	5.55	4.67	0.58626	Zinc finger, C3HC-like (1);	0.452625	0.25795	N	0.028249	T	0.42086	0.1187	L	0.27053	0.805	0.24323	N	0.995038	P;P;P	0.48764	0.828;0.831;0.915	P;P;P	0.51229	0.652;0.582;0.663	T	0.25222	-1.0138	10	0.51188	T	0.08	-11.4623	7.5018	0.27522	0.0:0.7513:0.0:0.2487	.	135;135;135	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	H	135;135;114;135;135	ENSP00000351052:D135H;ENSP00000353933:D135H;ENSP00000309301:D114H;ENSP00000418533:D135H	ENSP00000309301:D114H	D	-	1	0	ZC3HC1	129468033	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	0.577000	0.23758	1.339000	0.45563	0.462000	0.41574	GAC	ZC3HC1	-	pfam_Znf_C3HC-like	ENSG00000091732		0.393	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	78	0.00	0	C	NM_016478		129680797	129680797	-1	no_errors	ENST00000358303	ensembl	human	known	69_37n	missense	67	38.53	42	SNP	1.000	G
ZDHHC7	55625	genome.wustl.edu	37	16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-	rs531874653		TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:85010039delG	ENST00000313732.4	-	8	1189	c.837delC	c.(835-837)cccfs	p.P279fs	ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.P316fs|ZDHHC7_ENST00000569488.1_5'Flank	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	279					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S280fs*5(1)		large_intestine(6)|lung(4)	10						AGAGGAGTGAGGGGGGCCCCC	0.587																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											48.0	59.0	55.0					16																	85010039		2199	4300	6499	-	-	-	SO:0001589	frameshift_variant	0			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.837delC	16.37:g.85010039delG	ENSP00000315604:p.Pro279fs		D3DUM1|Q8WV42|Q9NVD8	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S317fs	ENST00000313732.4	37	c.948	CCDS10950.1	16																																																																																			ZDHHC7	-	NULL	ENSG00000153786		0.587	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1	69	0.00	0	G	NM_017740		85010039	85010039	-1	no_errors	ENST00000344861	ensembl	human	known	69_37n	frame_shift_del	17	43.75	14	DEL	0.902	-
ZFP28	140612	genome.wustl.edu	37	19	57065152	57065152	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:57065152C>G	ENST00000301318.3	+	8	1069	c.998C>G	c.(997-999)tCc>tGc	p.S333C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	333					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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CTTGATTGTTCCAGTTTCAGA	0.413																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													82.0	74.0	77.0					19																	57065152		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.998C>G	19.37:g.57065152C>G	ENSP00000301318:p.Ser333Cys		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	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.S333C	ENST00000301318.3	37	c.998	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	C	1.820	-0.472397	0.04445	.	.	ENSG00000196867	ENST00000301318	T	0.06218	3.33	4.96	1.38	0.22167	.	0.157867	0.30392	N	0.009730	T	0.07369	0.0186	M	0.64170	1.965	0.24261	N	0.995288	B	0.02656	0.0	B	0.08055	0.003	T	0.24404	-1.0161	10	0.38643	T	0.18	.	8.3811	0.32472	0.0:0.4506:0.4637:0.0856	.	333	Q8NHY6	ZFP28_HUMAN	C	333	ENSP00000301318:S333C	ENSP00000301318:S333C	S	+	2	0	ZFP28	61756964	0.034000	0.19679	0.010000	0.14722	0.226000	0.24999	1.408000	0.34668	0.655000	0.30866	-0.150000	0.13652	TCC	ZFP28	-	NULL	ENSG00000196867		0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	74	0.00	0	C	NM_020828		57065152	57065152	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.006	G
ZFP36L2	678	genome.wustl.edu	37	2	43452623	43452623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:43452623delC	ENST00000282388.3	-	2	613	c.320delG	c.(319-321)ggcfs	p.G109fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	109	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGTGCCGCCGCCCCCCGACGG	0.692																																						dbGAP											0													16.0	20.0	19.0					2																	43452623		2190	4297	6487	-	-	-	SO:0001589	frameshift_variant	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.320delG	2.37:g.43452623delC	ENSP00000282388:p.Gly109fs		Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.G107fs	ENST00000282388.3	37	c.320	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Tis11B_N	ENSG00000152518		0.692	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	34	0.00	0	C	NM_006887		43452623	43452623	-1	no_errors	ENST00000282388	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	1.000	-
ZKSCAN2	342357	genome.wustl.edu	37	16	25258142	25258142	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:25258142T>C	ENST00000328086.7	-	5	2178	c.1375A>G	c.(1375-1377)Agc>Ggc	p.S459G		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	459					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCCACCAAGCTGATGTGTTCC	0.488																																						dbGAP											0													153.0	133.0	140.0					16																	25258142		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1375A>G	16.37:g.25258142T>C	ENSP00000331626:p.Ser459Gly		A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S459G	ENST00000328086.7	37	c.1375	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	T	0.866	-0.733694	0.03111	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07114	3.22	5.57	0.699	0.18093	.	0.438446	0.24094	N	0.041619	T	0.05273	0.0140	L	0.44542	1.39	0.09310	N	1	B;B;B	0.23249	0.0;0.082;0.0	B;B;B	0.25140	0.001;0.058;0.001	T	0.44283	-0.9338	10	0.05436	T	0.98	-0.9645	4.6981	0.12813	0.0:0.1741:0.3548:0.471	.	255;459;459	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	G	459	ENSP00000331626:S459G	ENSP00000331626:S459G	S	-	1	0	ZKSCAN2	25165643	0.000000	0.05858	0.533000	0.28001	0.065000	0.16274	0.094000	0.15107	0.126000	0.18424	-0.313000	0.08912	AGC	ZKSCAN2	-	NULL	ENSG00000155592		0.488	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	137	0.00	0	T	NM_001012981		25258142	25258142	-1	no_errors	ENST00000328086	ensembl	human	known	69_37n	missense	79	48.03	73	SNP	0.150	C
ZMYM1	79830	genome.wustl.edu	37	1	35578941	35578941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:35578941delA	ENST00000373330.1	+	11	1684	c.1510delA	c.(1510-1512)aaafs	p.K505fs	ZMYM1_ENST00000359858.4_Frame_Shift_Del_p.K505fs|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	505						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTAATTGGAAAAAAACCCT	0.358																																						dbGAP											0													64.0	65.0	65.0					1																	35578941		1797	4070	5867	-	-	-	SO:0001589	frameshift_variant	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1510delA	1.37:g.35578941delA	ENSP00000362427:p.Lys505fs		D3DPR7|Q7Z3Q4	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH	p.T506fs	ENST00000373330.1	37	c.1510	CCDS41302.1	1																																																																																			ZMYM1	-	NULL	ENSG00000197056		0.358	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	35	0.00	0	A	NM_024772		35578941	35578941	+1	no_errors	ENST00000359858	ensembl	human	known	69_37n	frame_shift_del	18	32.14	9	DEL	0.996	-
ZNF12	7559	genome.wustl.edu	37	7	6730725	6730725	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:6730725C>G	ENST00000405858.1	-	5	2389	c.1848G>C	c.(1846-1848)caG>caC	p.Q616H	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Q542H|ZNF12_ENST00000342651.5_Missense_Mutation_p.Q578H|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	616					negative regulation of transcription, DNA-templated (GO:0045892)|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(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GATAGGACATCTGAGAGAAGC	0.433																																						dbGAP											0													83.0	89.0	87.0					7																	6730725		2199	4300	6499	-	-	-	SO:0001583	missense	0			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1848G>C	7.37:g.6730725C>G	ENSP00000385939:p.Gln616His		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	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.Q616H	ENST00000405858.1	37	c.1848	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275335	0.23307	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.15487	2.42;2.42;2.42	4.17	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36374	N	0.002622	T	0.17408	0.0418	N	0.20574	0.59	0.24809	N	0.992654	D;P	0.89917	1.0;0.719	D;B	0.87578	0.998;0.077	T	0.16719	-1.0393	10	0.15499	T	0.54	.	3.8798	0.09072	0.0:0.4938:0.1784:0.3278	.	616;578	P17014;P17014-5	ZNF12_HUMAN;.	H	542;616;578;674	ENSP00000384405:Q542H;ENSP00000385939:Q616H;ENSP00000344745:Q578H	ENSP00000344745:Q578H	Q	-	3	2	ZNF12	6697250	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	-1.272000	0.02826	0.259000	0.21709	-0.355000	0.07637	CAG	ZNF12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164631		0.433	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	114	0.00	0	C	NM_016265		6730725	6730725	-1	no_errors	ENST00000405858	ensembl	human	known	69_37n	missense	134	35.89	75	SNP	0.575	G
ZNF135	7694	genome.wustl.edu	37	19	58579047	58579047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:58579047C>T	ENST00000313434.5	+	5	1296	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	ZNF135_ENST00000439855.2_Nonsense_Mutation_p.Q399*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.Q423*|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.Q411*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.Q357*|RN7SL526P_ENST00000469492.2_RNA	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	399					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACCACTGATTCAGCACCAGAG	0.542																																						dbGAP											0													67.0	72.0	70.0					19																	58579047		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1195C>T	19.37:g.58579047C>T	ENSP00000321406:p.Gln399*		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_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.Q423*	ENST00000313434.5	37	c.1267		19	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257697	0.22965	.	.	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.1	0.564	0.17302	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	7.1794	0.25763	0.1658:0.5308:0.3034:0.0	.	.	.	.	X	423;399;399;411;357	.	ENSP00000321406:Q399X	Q	+	1	0	ZNF135	63270859	0.000000	0.05858	0.996000	0.52242	0.002000	0.02628	-1.252000	0.02880	0.611000	0.30052	-0.321000	0.08615	CAG	ZNF135	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	74	0.00	0	C	NM_003436		58579047	58579047	+1	no_errors	ENST00000401053	ensembl	human	known	69_37n	nonsense	96	42.17	70	SNP	0.019	T
ZNF165	7718	genome.wustl.edu	37	6	28056587	28056587	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:28056587G>A	ENST00000377325.1	+	4	1353	c.797G>A	c.(796-798)aGa>aAa	p.R266K	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	266					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)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATACAGTCAGAGGTGAAATA	0.418																																						dbGAP											0													48.0	52.0	50.0					6																	28056587		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.797G>A	6.37:g.28056587G>A	ENSP00000366542:p.Arg266Lys			Missense_Mutation	SNP	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.R266K	ENST00000377325.1	37	c.797	CCDS4643.1	6	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.293668	0.01375	.	.	ENSG00000197279	ENST00000377325	T	0.05319	3.46	2.76	-0.716	0.11212	.	.	.	.	.	T	0.01156	0.0038	L	0.31926	0.97	0.19300	N	0.99997	B	0.22276	0.067	B	0.15052	0.012	T	0.46707	-0.9172	9	0.06099	T	0.92	.	10.1636	0.42866	0.0:0.3349:0.6651:0.0	.	266	P49910	ZN165_HUMAN	K	266	ENSP00000366542:R266K	ENSP00000366542:R266K	R	+	2	0	ZNF165	28164566	0.001000	0.12720	0.330000	0.25442	0.547000	0.35210	-0.413000	0.07123	0.066000	0.16515	-0.368000	0.07277	AGA	ZNF165	-	NULL	ENSG00000197279		0.418	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	HGNC	protein_coding	OTTHUMT00000040173.1	49	0.00	0	G	NM_003447		28056587	28056587	+1	no_errors	ENST00000377325	ensembl	human	known	69_37n	missense	20	60.00	30	SNP	0.775	A
ZNF212	7988	genome.wustl.edu	37	7	148947404	148947404	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:148947404C>T	ENST00000335870.2	+	2	307	c.179C>T	c.(178-180)gCc>gTc	p.A60V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TCCCAGGCTGCCCGGCTACAG	0.597																																						dbGAP											0													46.0	50.0	48.0					7																	148947404		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.179C>T	7.37:g.148947404C>T	ENSP00000338572:p.Ala60Val		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A60V	ENST00000335870.2	37	c.179	CCDS5896.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067757	0.76301	.	.	ENSG00000170260	ENST00000335870	T	0.78003	-1.14	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000099	T	0.76076	0.3937	L	0.37630	1.12	0.42869	D	0.994138	P	0.42908	0.793	P	0.53549	0.729	T	0.70178	-0.4943	10	0.02654	T	1	-16.6517	15.118	0.72419	0.0:1.0:0.0:0.0	.	60	Q9UDV6	ZN212_HUMAN	V	60	ENSP00000338572:A60V	ENSP00000338572:A60V	A	+	2	0	ZNF212	148578337	0.021000	0.18746	0.994000	0.49952	0.915000	0.54546	2.757000	0.47557	2.653000	0.90120	0.563000	0.77884	GCC	ZNF212	-	pfam_DUF3669_Znf	ENSG00000170260		0.597	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	68	0.00	0	C	NM_012256		148947404	148947404	+1	no_errors	ENST00000335870	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	1.000	T
ZNF275	10838	genome.wustl.edu	37	X	152612505	152612505	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chrX:152612505G>C	ENST00000421401.3	+	4	539	c.362G>C	c.(361-363)aGa>aCa	p.R121T	ZNF275_ENST00000370251.3_Missense_Mutation_p.R121T|ZNF275_ENST00000370249.2_Missense_Mutation_p.R68T|ZNF275_ENST00000440091.1_Missense_Mutation_p.R151T			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	121					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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCACCAGAGAGTCCACAGT	0.537																																						dbGAP											0													62.0	64.0	63.0					X																	152612505		2117	4205	6322	-	-	-	SO:0001583	missense	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.362G>C	X.37:g.152612505G>C	ENSP00000398977:p.Arg121Thr		A6NE92	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.R151T	ENST00000421401.3	37	c.452		X	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703668	0.48412	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.75	3.88	0.44766	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.494091	0.14501	N	0.315705	T	0.33527	0.0866	L	0.44542	1.39	0.09310	N	1	P;P	0.47106	0.76;0.89	P;P	0.52159	0.478;0.691	T	0.08953	-1.0697	10	0.62326	D	0.03	-8.6718	11.257	0.49060	0.0:0.0:0.8161:0.1839	.	121;121	Q9NSD4;A6NFS0	ZN275_HUMAN;.	T	121;121;151;68	ENSP00000359271:R121T;ENSP00000398977:R121T;ENSP00000411097:R151T;ENSP00000359269:R68T	ENSP00000359269:R68T	R	+	2	0	ZNF275	152265699	0.000000	0.05858	0.124000	0.21820	0.964000	0.63967	0.535000	0.23114	1.112000	0.41740	0.513000	0.50165	AGA	ZNF275	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000063587		0.537	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	HGNC	protein_coding		89	0.00	0	G	NM_001080485		152612505	152612505	+1	no_errors	ENST00000440091	ensembl	human	known	69_37n	missense	19	66.67	38	SNP	0.006	C
ZNF318	24149	genome.wustl.edu	37	6	43306449	43306449	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:43306449C>G	ENST00000361428.2	-	10	5364	c.5287G>C	c.(5287-5289)Gag>Cag	p.E1763Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1763					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTACGGAGCTCTTGGCTTTCC	0.423																																						dbGAP											0													111.0	109.0	110.0					6																	43306449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5287G>C	6.37:g.43306449C>G	ENSP00000354964:p.Glu1763Gln		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.E1763Q	ENST00000361428.2	37	c.5287	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564198	0.45694	.	.	ENSG00000171467	ENST00000361428	T	0.15372	2.43	5.78	4.91	0.64330	.	0.224065	0.31734	N	0.007148	T	0.10937	0.0267	L	0.32530	0.975	0.80722	D	1	P	0.49961	0.93	P	0.49226	0.603	T	0.02358	-1.1171	10	0.62326	D	0.03	-4.6227	11.8372	0.52333	0.0:0.9187:0.0:0.0813	.	1763	Q5VUA4	ZN318_HUMAN	Q	1763	ENSP00000354964:E1763Q	ENSP00000354964:E1763Q	E	-	1	0	ZNF318	43414427	0.018000	0.18449	0.899000	0.35326	0.225000	0.24961	1.115000	0.31209	1.459000	0.47892	0.563000	0.77884	GAG	ZNF318	-	NULL	ENSG00000171467		0.423	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	127	0.78	1	C	NM_014345		43306449	43306449	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	missense	48	70.91	117	SNP	0.949	G
ZNF382	84911	genome.wustl.edu	37	19	37118075	37118075	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:37118075C>T	ENST00000292928.2	+	5	1389	c.1276C>T	c.(1276-1278)Cat>Tat	p.H426Y	ZNF382_ENST00000439428.1_Missense_Mutation_p.H425Y|ZNF382_ENST00000435416.1_Missense_Mutation_p.H425Y|ZNF382_ENST00000423582.1_Missense_Mutation_p.H377Y|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	426	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTCACTGTTCATCAGAGAAC	0.453																																						dbGAP											0													78.0	77.0	78.0					19																	37118075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1276C>T	19.37:g.37118075C>T	ENSP00000292928:p.His426Tyr		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	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.H426Y	ENST00000292928.2	37	c.1276	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807156	0.70797	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000426	D	0.94637	0.8271	M	0.92268	3.29	0.45183	D	0.998192	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95664	0.8718	10	0.87932	D	0	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	425;425;426	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	Y	377;426;425;425	ENSP00000389722:H377Y;ENSP00000292928:H426Y;ENSP00000407593:H425Y;ENSP00000410113:H425Y	ENSP00000292928:H426Y	H	+	1	0	ZNF382	41809915	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.434000	0.80377	2.375000	0.81037	0.591000	0.81541	CAT	ZNF382	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000161298		0.453	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	49	0.00	0	C	NM_032825		37118075	37118075	+1	no_errors	ENST00000292928	ensembl	human	known	69_37n	missense	85	22.73	25	SNP	0.999	T
ZNF423	23090	genome.wustl.edu	37	16	49660157	49660157	+	Silent	SNP	T	T	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr16:49660157T>A	ENST00000561648.1	-	5	3554	c.3501A>T	c.(3499-3501)acA>acT	p.T1167T	ZNF423_ENST00000563137.2_Silent_p.T1107T|ZNF423_ENST00000535559.1_Silent_p.T1050T|ZNF423_ENST00000562520.1_Silent_p.T1107T|ZNF423_ENST00000562871.1_Silent_p.T1107T|ZNF423_ENST00000567169.1_Silent_p.T1050T|ZNF423_ENST00000262383.2_Silent_p.T1167T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1167					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCACTGGTATGTCTTTTTCT	0.453																																						dbGAP											0													259.0	229.0	239.0					16																	49660157		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3501A>T	16.37:g.49660157T>A			O94860|Q76N04|Q9NZ13	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1167	ENST00000561648.1	37	c.3501	CCDS32445.1	16																																																																																			ZNF423	-	NULL	ENSG00000102935		0.453	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	250	0.00	0	T	NM_015069		49660157	49660157	-1	no_errors	ENST00000262383	ensembl	human	known	69_37n	silent	82	53.41	94	SNP	0.889	A
ZNF445	353274	genome.wustl.edu	37	3	44489770	44489770	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:44489770C>G	ENST00000396077.2	-	8	1740	c.1393G>C	c.(1393-1395)Gac>Cac	p.D465H	ZNF445_ENST00000425708.2_Missense_Mutation_p.D465H	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	465					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGCTGAAGTCTTTTCCACAC	0.478																																						dbGAP											0													223.0	212.0	215.0					3																	44489770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1393G>C	3.37:g.44489770C>G	ENSP00000379387:p.Asp465His		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D465H	ENST00000396077.2	37	c.1393	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765368	0.31228	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.15017	2.46;2.46	4.14	1.27	0.21489	.	1.228020	0.05711	N	0.595925	T	0.10551	0.0258	N	0.13168	0.305	0.09310	N	0.999997	P;P	0.45283	0.855;0.855	B;B	0.41510	0.359;0.359	T	0.16719	-1.0393	10	0.62326	D	0.03	.	2.7221	0.05204	0.2069:0.3588:0.0:0.4343	.	453;465	B7ZKX2;P59923	.;ZN445_HUMAN	H	465	ENSP00000413073:D465H;ENSP00000379387:D465H	ENSP00000379387:D465H	D	-	1	0	ZNF445	44464774	0.000000	0.05858	0.011000	0.14972	0.587000	0.36485	-0.599000	0.05700	0.248000	0.21435	0.591000	0.81541	GAC	ZNF445	-	NULL	ENSG00000185219		0.478	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	141	0.00	0	C	NM_181489		44489770	44489770	-1	no_errors	ENST00000396077	ensembl	human	known	69_37n	missense	62	46.09	53	SNP	0.025	G
ZNF568	374900	genome.wustl.edu	37	19	37488357	37488357	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:37488357G>A	ENST00000455427.2	+	9	1901	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	555					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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACTGGGGAGAGACCCCATA	0.443																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1572G>A	19.37:g.37488357G>A			B4DS92|E7ER33|Q6N060|Q8NA64	Silent	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.E524	ENST00000455427.2	37	c.1572	CCDS56093.1	19																																																																																			ZNF568	-	pfscan_Znf_C2H2	ENSG00000198453		0.443	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	9	0.00	0	G	NM_198539		37488357	37488357	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	silent	19	51.28	20	SNP	0.986	A
ZNF592	9640	genome.wustl.edu	37	15	85341183	85341183	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:85341183A>G	ENST00000560079.2	+	6	2771	c.2483A>G	c.(2482-2484)aAa>aGa	p.K828R	ZNF592_ENST00000299927.3_Missense_Mutation_p.K828R	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	828					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTTTTCCACAAATGTGCATTC	0.592																																						dbGAP											0													120.0	88.0	99.0					15																	85341183		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2483A>G	15.37:g.85341183A>G	ENSP00000452877:p.Lys828Arg		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K828R	ENST00000560079.2	37	c.2483	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747099	0.89663	.	.	ENSG00000166716	ENST00000299927	T	0.01981	4.52	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	L	0.59967	1.855	0.45883	D	0.998731	D	0.89917	1.0	D	0.87578	0.998	T	0.00636	-1.1633	10	0.72032	D	0.01	-13.8687	13.9761	0.64275	1.0:0.0:0.0:0.0	.	828	Q92610	ZN592_HUMAN	R	828	ENSP00000299927:K828R	ENSP00000299927:K828R	K	+	2	0	ZNF592	83142187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.193000	0.70182	0.459000	0.35465	AAA	ZNF592	-	smart_Znf_C2H2-like	ENSG00000166716		0.592	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	51	0.00	0	A	NM_014630		85341183	85341183	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	missense	15	51.61	16	SNP	1.000	G
ZNF616	90317	genome.wustl.edu	37	19	52618995	52618995	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:52618995G>A	ENST00000600228.1	-	4	1683	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	474					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)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AATGTATGCTGAAAACTTTGC	0.413																																						dbGAP											0													123.0	111.0	115.0					19																	52618995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1422C>T	19.37:g.52618995G>A			B3KRV1|Q0P658|Q658V7	Silent	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.F474	ENST00000600228.1	37	c.1422	CCDS33090.1	19																																																																																			ZNF616	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.413	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	121	0.00	0	G	XM_030892		52618995	52618995	-1	no_errors	ENST00000330123	ensembl	human	known	69_37n	silent	172	22.52	50	SNP	0.004	A
ZNF648	127665	genome.wustl.edu	37	1	182026740	182026740	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr1:182026740C>T	ENST00000339948.3	-	2	613	c.406G>A	c.(406-408)Ggt>Agt	p.G136S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TGCATCTGACCTAACAATTTG	0.572																																					NSCLC(71;908 1374 5429 20458 35642)	dbGAP											0													87.0	84.0	85.0					1																	182026740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.406G>A	1.37:g.182026740C>T	ENSP00000344129:p.Gly136Ser		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G136S	ENST00000339948.3	37	c.406	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600536	0.28534	.	.	ENSG00000179930	ENST00000339948	T	0.06608	3.28	2.22	1.22	0.21188	.	.	.	.	.	T	0.03959	0.0111	N	0.24115	0.695	0.09310	N	1	P	0.39480	0.675	B	0.30943	0.122	T	0.40213	-0.9575	9	0.56958	D	0.05	.	8.4471	0.32849	0.0:0.7557:0.2443:0.0	.	136	Q5T619	ZN648_HUMAN	S	136	ENSP00000344129:G136S	ENSP00000344129:G136S	G	-	1	0	ZNF648	180293363	.	.	0.002000	0.10522	0.141000	0.21300	.	.	0.450000	0.26774	0.655000	0.94253	GGT	ZNF648	-	NULL	ENSG00000179930		0.572	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	64	0.00	0	C	XM_060597		182026740	182026740	-1	no_errors	ENST00000339948	ensembl	human	known	69_37n	missense	62	18.42	14	SNP	0.017	T
ZNF654	55279	genome.wustl.edu	37	3	88189622	88189625	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	ACAG	ACAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr3:88189622_88189625delACAG	ENST00000309495.5	+	1	1369_1372	c.1162_1165delACAG	c.(1162-1167)acagacfs	p.TD388fs	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAAAAGAAAACAGACAGTTTAGT	0.348																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1162_1165delACAG	3.37:g.88189626_88189629delACAG	ENSP00000312141:p.Thr388fs		Q9H791|Q9NV14	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D389fs	ENST00000309495.5	37	c.1162_1165	CCDS46874.1	3																																																																																			ZNF654	-	NULL	ENSG00000175105		0.348	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF654	HGNC	protein_coding	OTTHUMT00000353285.2	26	0.00	0	ACAG	NM_018293		88189622	88189625	+1	no_errors	ENST00000309495	ensembl	human	known	69_37n	frame_shift_del	9	35.71	5	DEL	1.000:1.000:1.000:1.000	-
ZNF658	26149	genome.wustl.edu	37	9	40773227	40773227	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:40773227C>T	ENST00000602553.1	-	5	2342	c.2048G>A	c.(2047-2049)aGa>aAa	p.R683K	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R683K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	683					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)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATAGGGTTTTCTACCTGTGTG	0.418																																						dbGAP											0													1.0	1.0	1.0					9																	40773227		435	846	1281	-	-	-	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2048G>A	9.37:g.40773227C>T	ENSP00000473484:p.Arg683Lys		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.R683K	ENST00000602553.1	37	c.2048	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	10.30	1.311198	0.23821	.	.	ENSG00000196409	ENST00000377626	T	0.15139	2.45	1.85	0.659	0.17861	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	N	0.01188	-0.97	0.37355	D	0.910973	B	0.10296	0.003	B	0.09377	0.004	T	0.19224	-1.0312	9	0.59425	D	0.04	.	5.0444	0.14475	0.0:0.1777:0.0:0.8223	.	683	Q5TYW1	ZN658_HUMAN	K	683	ENSP00000366853:R683K	ENSP00000366853:R683K	R	-	2	0	ZNF658	40763227	1.000000	0.71417	0.021000	0.16686	0.951000	0.60555	3.657000	0.54474	0.191000	0.20236	-0.499000	0.04595	AGA	ZNF658	-	pfscan_Znf_C2H2	ENSG00000196409		0.418	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	81	0.00	0	C	NM_033160		40773227	40773227	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	missense	120	34.43	63	SNP	0.587	T
ZNF658	26149	genome.wustl.edu	37	9	40773922	40773922	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr9:40773922C>G	ENST00000602553.1	-	5	1647	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H	ZNF658_ENST00000441795.1_Missense_Mutation_p.Q449H|ZNF658_ENST00000377626.3_Missense_Mutation_p.Q451H			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	451					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)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTTTGAATTCTGACAGAAAG	0.388																																						dbGAP											0													22.0	23.0	23.0					9																	40773922		2021	4176	6197	-	-	-	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1353G>C	9.37:g.40773922C>G	ENSP00000473484:p.Gln451His		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	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.Q451H	ENST00000602553.1	37	c.1353	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	8.281	0.815449	0.16607	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.50548	0.74;0.74	1.85	0.861	0.19048	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38295	0.1035	L	0.31578	0.945	0.09310	N	1	D;B	0.59767	0.986;0.136	P;B	0.53861	0.736;0.032	T	0.18967	-1.0320	9	0.18276	T	0.48	.	2.3923	0.04381	0.2998:0.5198:0.0:0.1804	.	451;451	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	H	449;451	ENSP00000408462:Q449H;ENSP00000366853:Q451H	ENSP00000366853:Q451H	Q	-	3	2	ZNF658	40763922	0.000000	0.05858	0.007000	0.13788	0.853000	0.48598	-3.903000	0.00338	0.318000	0.23185	0.384000	0.25694	CAG	ZNF658	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196409		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	40	0.00	0	C	NM_033160		40773922	40773922	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	0.000	G
ZNF76	7629	genome.wustl.edu	37	6	35262361	35262361	+	Intron	SNP	G	G	C			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr6:35262361G>C	ENST00000373953.3	+	13	1874				ZNF76_ENST00000339411.5_Intron|ZNF76_ENST00000440666.2_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76						regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTAGAGATCTGGGAGGAAAGG	0.507											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(52;92 1039 20612 23956 34676)	dbGAP											0													82.0	70.0	74.0					6																	35262361		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1608+15G>C	6.37:g.35262361G>C		854	Q9BQB2	Missense_Mutation	SNP	NULL	p.W74S	ENST00000373953.3	37	c.221	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	G	2.935	-0.220095	0.06061	.	.	ENSG00000065029	ENST00000498555	.	.	.	4.43	2.54	0.30619	.	.	.	.	.	T	0.12433	0.0302	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.20505	-1.0273	4	.	.	.	.	6.0491	0.19775	0.1056:0.1909:0.7035:0.0	.	.	.	.	S	74	.	.	W	+	2	0	ZNF76	35370339	0.000000	0.05858	0.005000	0.12908	0.106000	0.19336	-0.235000	0.09016	1.079000	0.41038	0.655000	0.94253	TGG	ZNF76	-	NULL	ENSG00000065029		0.507	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	86	0.00	0	G	NM_003427		35262361	35262361	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000498555	ensembl	human	putative	69_37n	missense	19	72.06	49	SNP	0.001	C
ZNF765	91661	genome.wustl.edu	37	19	53912082	53912082	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:53912082C>G	ENST00000396408.3	+	4	1391	c.1274C>G	c.(1273-1275)aCc>aGc	p.T425S	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	425					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(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAGCAGTTAACCCTTAACATT	0.363																																						dbGAP											0													82.0	85.0	84.0					19																	53912082		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.1274C>G	19.37:g.53912082C>G	ENSP00000379689:p.Thr425Ser		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	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.T425S	ENST00000396408.3	37	c.1274	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.565787	0.00134	.	.	ENSG00000196417	ENST00000396408	T	0.07114	3.22	1.01	-2.02	0.07388	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.02213	-0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44937	-0.9295	8	.	.	.	.	1.1765	0.01836	0.1992:0.2255:0.3955:0.1797	.	425	Q7L2R6	ZN765_HUMAN	S	425	ENSP00000379689:T425S	.	T	+	2	0	ZNF765	58603894	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.141000	0.00586	-0.616000	0.05671	-1.188000	0.01700	ACC	ZNF765	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196417		0.363	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	66	0.00	0	C	NM_138372		53912082	53912082	+1	no_errors	ENST00000396408	ensembl	human	known	69_37n	missense	126	34.38	66	SNP	0.000	G
ZNF770	54989	genome.wustl.edu	37	15	35274694	35274694	+	Silent	SNP	A	A	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr15:35274694A>G	ENST00000356321.4	-	3	1286	c.942T>C	c.(940-942)tgT>tgC	p.C314C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	314					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TAGCAGCAAAACAGCTGTGTT	0.368																																						dbGAP											0													34.0	36.0	35.0					15																	35274694		2195	4290	6485	-	-	-	SO:0001819	synonymous_variant	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.942T>C	15.37:g.35274694A>G			Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C314	ENST00000356321.4	37	c.942	CCDS10042.1	15																																																																																			ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	41	0.00	0	A	NM_014106		35274694	35274694	-1	no_errors	ENST00000356321	ensembl	human	known	69_37n	silent	28	33.33	14	SNP	1.000	G
ZNF799	90576	genome.wustl.edu	37	19	12502762	12502762	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:12502762G>A	ENST00000430385.3	-	4	650	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ZNF799_ENST00000419318.1_Silent_p.F118F|CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGTGGTAACTGAAGGCTTTCC	0.423																																						dbGAP											0													180.0	168.0	172.0					19																	12502762		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.450C>T	19.37:g.12502762G>A				Silent	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.F150	ENST00000430385.3	37	c.450	CCDS45989.1	19																																																																																			ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196466		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	277	0.00	0	G	NM_001080821		12502762	12502762	-1	no_errors	ENST00000430385	ensembl	human	known	69_37n	silent	301	26.23	107	SNP	0.002	A
ZNF780A	284323	genome.wustl.edu	37	19	40581230	40581230	+	Silent	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:40581230G>A	ENST00000595687.2	-	6	1328	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	ZNF780A_ENST00000455521.1_Silent_p.L374L|ZNF780A_ENST00000594395.1_Silent_p.L374L|ZNF780A_ENST00000450241.2_Silent_p.L339L|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.L373L|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	373					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAGCTGGTTGAGAAGACTAA	0.423																																						dbGAP											0													106.0	109.0	108.0					19																	40581230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1119C>T	19.37:g.40581230G>A			E9PB48|Q6ZN87	Silent	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.L374	ENST00000595687.2	37	c.1122	CCDS33026.2	19																																																																																			ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	116	0.00	0	G	NM_001010880		40581230	40581230	-1	no_errors	ENST00000455521	ensembl	human	known	69_37n	silent	135	33.50	68	SNP	0.000	A
ZNF804B	219578	genome.wustl.edu	37	7	88956723	88956724	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr7:88956723_88956724insA	ENST00000333190.4	+	3	924_925	c.315_316insA	c.(316-318)aaafs	p.K106fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	106							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGAAAGATGAGAAAAAACAAGA	0.361										HNSCC(36;0.09)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.321dupA	7.37:g.88956729_88956729dupA	ENSP00000329638:p.Lys106fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	pfam_Znf_C2H2_jaz	p.Q107fs	ENST00000333190.4	37	c.315_316	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.361	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	83	0.00	0	-	NM_181646		88956723	88956724	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	frame_shift_ins	87	26.89	32	INS	0.992:1.000	A
ZNF829	374899	genome.wustl.edu	37	19	37382414	37382414	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:37382414C>T	ENST00000391711.3	-	6	1643	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	ZNF829_ENST00000520965.1_Missense_Mutation_p.E508K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	427					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(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATTCCCTCATGGCGAATG	0.363																																						dbGAP											0													57.0	58.0	58.0					19																	37382414		2161	4287	6448	-	-	-	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1279G>A	19.37:g.37382414C>T	ENSP00000429266:p.Glu427Lys		Q3KNS7|Q6ZNN0|Q7Z657	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.E508K	ENST00000391711.3	37	c.1522	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015739	0.35606	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.51071	0.72	3.28	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22898	0.0553	N	0.05199	-0.095	0.22601	N	0.998946	B	0.06786	0.001	B	0.04013	0.001	T	0.16247	-1.0409	9	0.49607	T	0.09	.	4.2601	0.10737	0.0:0.3646:0.4023:0.2331	.	427	Q3KNS6	ZN829_HUMAN	K	427	ENSP00000429266:E427K	ENSP00000429266:E427K	E	-	1	0	ZNF829	42074254	0.000000	0.05858	0.964000	0.40570	0.975000	0.68041	-2.732000	0.00804	0.355000	0.24131	0.557000	0.71058	GAG	ZNF829	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.363	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	51	0.00	0	C	NM_001037232		37382414	37382414	-1	no_errors	ENST00000520965	ensembl	human	known	69_37n	missense	56	46.67	49	SNP	0.948	T
ZNF845	91664	genome.wustl.edu	37	19	53856140	53856140	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:53856140C>G	ENST00000595091.1	+	5	2431	c.2212C>G	c.(2212-2214)Ctt>Gtt	p.L738V	ZNF845_ENST00000458035.1_Missense_Mutation_p.L738V			Q96IR2	ZN845_HUMAN	zinc finger protein 845	738				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TACATGCCATCTTAGACTTCA	0.403																																						dbGAP											0													52.0	49.0	50.0					19																	53856140		692	1591	2283	-	-	-	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2212C>G	19.37:g.53856140C>G	ENSP00000470005:p.Leu738Val			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.L738V	ENST00000595091.1	37	c.2212	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	C	6.348	0.432238	0.12045	.	.	ENSG00000213799	ENST00000458035	T	0.20598	2.06	2.07	0.906	0.19314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15522	0.0374	L	0.35542	1.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23511	-1.0186	9	0.56958	D	0.05	.	8.4478	0.32852	0.2637:0.7363:0.0:0.0	.	738	Q96IR2	ZN845_HUMAN	V	738	ENSP00000388311:L738V	ENSP00000388311:L738V	L	+	1	0	ZNF845	58547952	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	-1.096000	0.03353	0.130000	0.18549	0.461000	0.40582	CTT	ZNF845	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213799		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	88	0.00	0	C	XM_039908		53856140	53856140	+1	no_errors	ENST00000458035	ensembl	human	known	69_37n	missense	179	33.46	90	SNP	0.266	G
ZNF845	91664	genome.wustl.edu	37	19	53856158	53856158	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:53856158G>A	ENST00000595091.1	+	5	2449	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	ZNF845_ENST00000458035.1_Missense_Mutation_p.E744K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	744				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCATACTGGAGAGAAACCTTA	0.403																																						dbGAP											0													40.0	38.0	39.0					19																	53856158		692	1591	2283	-	-	-	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2230G>A	19.37:g.53856158G>A	ENSP00000470005:p.Glu744Lys			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.E744K	ENST00000595091.1	37	c.2230	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430637	0.62844	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.24350	1.86	2.07	-2.79	0.05841	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29783	0.0744	L	0.28649	0.875	0.20873	N	0.999832	D	0.76494	0.999	D	0.68943	0.961	T	0.20174	-1.0283	9	0.72032	D	0.01	.	5.1636	0.15073	0.2012:0.1728:0.626:0.0	.	744	Q96IR2	ZN845_HUMAN	K	744;660	ENSP00000388311:E744K	ENSP00000412086:E660K	E	+	1	0	ZNF845	58547970	0.026000	0.19158	0.000000	0.03702	0.142000	0.21351	0.720000	0.25896	-0.685000	0.05177	0.461000	0.40582	GAG	ZNF845	-	pfscan_Znf_C2H2	ENSG00000213799		0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	95	0.00	0	G	XM_039908		53856158	53856158	+1	no_errors	ENST00000458035	ensembl	human	known	69_37n	missense	166	37.36	99	SNP	0.816	A
ZNFX1	57169	genome.wustl.edu	37	20	47887732	47887732	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr20:47887732T>G	ENST00000396105.1	-	3	863	c.617A>C	c.(616-618)cAt>cCt	p.H206P	ZNFX1_ENST00000371752.1_Missense_Mutation_p.H206P|ZNFX1_ENST00000371754.4_Missense_Mutation_p.H206P	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	206							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCCAGTACATGGAGAACACT	0.458																																						dbGAP											0													143.0	147.0	146.0					20																	47887732		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.617A>C	20.37:g.47887732T>G	ENSP00000379412:p.His206Pro		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.H206P	ENST00000396105.1	37	c.617	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942720	0.34283	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	T;T;T;T;D	0.81908	-0.3;-0.3;-0.3;-0.3;-1.55	5.86	5.86	0.93980	.	0.047892	0.85682	D	0.000000	D	0.83105	0.5182	L	0.55481	1.735	0.48185	D	0.999608	D	0.56035	0.974	P	0.49140	0.601	T	0.80913	-0.1170	10	0.23302	T	0.38	-18.8227	15.0719	0.72042	0.0:0.0:0.0:1.0	.	206	Q9P2E3	ZNFX1_HUMAN	P	206;206;206;206;206;10	ENSP00000360819:H206P;ENSP00000360817:H206P;ENSP00000379412:H206P;ENSP00000360809:H206P;ENSP00000413800:H10P	ENSP00000360809:H206P	H	-	2	0	ZNFX1	47321139	1.000000	0.71417	0.691000	0.30163	0.352000	0.29268	3.791000	0.55469	2.241000	0.73720	0.533000	0.62120	CAT	ZNFX1	-	superfamily_ARM-type_fold	ENSG00000124201		0.458	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	77	0.00	0	T	NM_021035		47887732	47887732	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	missense	70	32.69	34	SNP	0.993	G
ZRANB3	84083	genome.wustl.edu	37	2	135957918	135957918	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr2:135957918C>A	ENST00000264159.6	-	21	3350	c.3234G>T	c.(3232-3234)aaG>aaT	p.K1078N	ZRANB3_ENST00000412849.1_Intron|ZRANB3_ENST00000536680.1_Missense_Mutation_p.K1076N|ZRANB3_ENST00000401392.1_Missense_Mutation_p.K1076N	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1078	Endonuclease activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TACTTTACTTCTTTACCAAAA	0.338																																						dbGAP											0													107.0	98.0	101.0					2																	135957918		1840	4086	5926	-	-	-	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3234G>T	2.37:g.135957918C>A	ENSP00000264159:p.Lys1078Asn		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1078N	ENST00000264159.6	37	c.3234	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056054	0.76074	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.92595	-3.07;-3.07;-3.06	5.47	3.67	0.42095	.	0.109255	0.64402	D	0.000007	D	0.94228	0.8147	L	0.60455	1.87	0.40588	D	0.981467	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	D	0.93842	0.7137	10	0.87932	D	0	-11.891	10.8849	0.46962	0.0:0.8478:0.0:0.1522	.	1078;1076	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	N	541;541;1076;1078;1076	ENSP00000383979:K1076N;ENSP00000264159:K1078N;ENSP00000441320:K1076N	ENSP00000264159:K1078N	K	-	3	2	ZRANB3	135674388	1.000000	0.71417	0.948000	0.38648	0.941000	0.58515	2.534000	0.45676	0.681000	0.31386	0.591000	0.81541	AAG	ZRANB3	-	NULL	ENSG00000121988		0.338	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	197	0.00	0	C	NM_032143		135957918	135957918	-1	no_errors	ENST00000264159	ensembl	human	known	69_37n	missense	169	28.69	68	SNP	1.000	A
ZSCAN5A	79149	genome.wustl.edu	37	19	56736086	56736086	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1J8-01A-11D-A13L-09	TCGA-D8-A1J8-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1857f611-3082-45d3-801c-800e685ade07	58ca54bc-8f1a-4ffc-916c-f96b993e3c45	g.chr19:56736086C>G	ENST00000587340.1	-	4	1025	c.330G>C	c.(328-330)caG>caC	p.Q110H	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.Q110H|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.Q110H			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	110	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTTGCAGCTCTGCACACCGT	0.542																																						dbGAP											0													18.0	18.0	18.0					19																	56736086		2126	4195	6321	-	-	-	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.330G>C	19.37:g.56736086C>G	ENSP00000467631:p.Gln110His		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	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.Q110H	ENST00000587340.1	37	c.330	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045407	0.36085	.	.	ENSG00000131848	ENST00000391713	T	0.04603	3.59	2.27	2.27	0.28462	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.12433	0.0302	M	0.62088	1.915	0.21499	N	0.999661	P	0.47484	0.896	P	0.55455	0.776	T	0.05818	-1.0862	9	0.72032	D	0.01	.	8.1096	0.30907	0.0:1.0:0.0:0.0	.	110	Q9BUG6	ZSA5A_HUMAN	H	110	ENSP00000375593:Q110H	ENSP00000375593:Q110H	Q	-	3	2	ZSCAN5A	61427898	0.059000	0.20769	0.003000	0.11579	0.011000	0.07611	1.184000	0.32053	1.586000	0.49944	0.491000	0.48974	CAG	ZSCAN5A	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000131848		0.542	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	42	0.00	0	C	NM_024303		56736086	56736086	-1	no_errors	ENST00000391713	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.003	G
