#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
AMPH	273	genome.wustl.edu	37	7	38431520	38431520	+	Silent	SNP	G	G	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr7:38431520G>A	ENST00000356264.2	-	19	1922	c.1707C>T	c.(1705-1707)acC>acT	p.T569T	AMPH_ENST00000428293.2_Silent_p.T527T|AMPH_ENST00000325590.5_Silent_p.T527T|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	569					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCGCGTCCTCGGTGGTCTCCT	0.597																																						dbGAP											0													63.0	60.0	61.0					7																	38431520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1707C>T	7.37:g.38431520G>A			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain	p.R452*	ENST00000356264.2	37	c.1354	CCDS5456.1	7	.	.	.	.	.	.	.	.	.	.	G	6.181	0.401656	0.11696	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.75	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2362	1.2642	0.02007	0.4428:0.2408:0.1331:0.1833	.	.	.	.	X	452	.	.	R	-	1	2	AMPH	38398045	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.181000	0.03085	-2.066000	0.00886	-0.218000	0.12543	CGA	AMPH	-	NULL	ENSG00000078053		0.597	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	27	0.00	0	G	NM_001635		38431520	38431520	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441628	ensembl	human	novel	69_37n	nonsense	27	25.00	9	SNP	0.000	A
AP1G2	8906	genome.wustl.edu	37	14	24030620	24030620	+	Silent	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr14:24030620C>T	ENST00000308724.5	-	18	2633	c.1878G>A	c.(1876-1878)ctG>ctA	p.L626L	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Silent_p.L626L|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	626					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGAGATCTAGCAGATCCAGGA	0.607																																						dbGAP											0													54.0	54.0	54.0					14																	24030620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1878G>A	14.37:g.24030620C>T			D3DS51|O75504	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.L626	ENST00000308724.5	37	c.1878	CCDS9602.1	14																																																																																			AP1G2	-	pirsf_AP1_complex_gsu	ENSG00000213983		0.607	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	30	0.00	0	C	NM_003917		24030620	24030620	-1	no_errors	ENST00000308724	ensembl	human	known	69_37n	silent	30	21.05	8	SNP	0.760	T
ATF2	1386	genome.wustl.edu	37	2	175979570	175979570	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr2:175979570C>G	ENST00000264110.2	-	8	772	c.474G>C	c.(472-474)caG>caC	p.Q158H	ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409833.1_Missense_Mutation_p.Q158H|ATF2_ENST00000409635.1_Missense_Mutation_p.Q100H|ATF2_ENST00000392544.1_Missense_Mutation_p.Q158H|ATF2_ENST00000538946.1_Missense_Mutation_p.Q140H|ATF2_ENST00000345739.5_Missense_Mutation_p.Q100H|ATF2_ENST00000426833.3_Missense_Mutation_p.Q140H|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000487334.2_Missense_Mutation_p.Q140H	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	158					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|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 transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CTGATGTGGGCTGTGCAGTTT	0.393																																					Pancreas(17;87 705 4534 15538 30988)	dbGAP											0													218.0	203.0	208.0					2																	175979570		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.474G>C	2.37:g.175979570C>G	ENSP00000264110:p.Gln158His		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.Q158H	ENST00000264110.2	37	c.474	CCDS2262.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.484539|2.484539	0.44147|0.44147	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833|ENST00000435004	T;T;T;T;T;T;D;D|.	0.90563|.	-1.1;0.48;0.48;-1.1;-1.1;-0.66;-2.69;-2.69|.	5.64|5.64	2.88|2.88	0.33553|0.33553	.|.	0.058801|.	0.64402|.	D|.	0.000001|.	T|T	0.32255|0.32255	0.0823|0.0823	N|N	0.08118|0.08118	0|0	0.39654|0.39654	D|D	0.970518|0.970518	P;P;B;P|.	0.48640|.	0.875;0.913;0.016;0.9|.	B;B;B;P|.	0.46718|.	0.36;0.254;0.01;0.525|.	T|T	0.08371|0.08371	-1.0725|-1.0725	10|5	0.41790|.	T|.	0.15|.	-15.6964|-15.6964	9.2737|9.2737	0.37688|0.37688	0.0:0.723:0.0:0.277|0.0:0.723:0.0:0.277	.|.	140;135;100;158|.	A4D7U4;B3KY57;Q3B7B7;P15336|.	.;.;.;ATF2_HUMAN|.	H|T	158;100;135;100;158;140;140;140;100;158|147	ENSP00000264110:Q158H;ENSP00000340576:Q100H;ENSP00000387093:Q100H;ENSP00000376327:Q158H;ENSP00000407911:Q140H;ENSP00000437952:Q140H;ENSP00000443513:Q140H;ENSP00000386526:Q158H|.	ENSP00000264110:Q158H|.	Q|S	-|-	3|2	2|0	ATF2|ATF2	175687816|175687816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.680000|1.680000	0.37607|0.37607	0.760000|0.760000	0.33108|0.33108	0.585000|0.585000	0.79938|0.79938	CAG|AGC	ATF2	-	pirsf_TF_cAMP-dep	ENSG00000115966		0.393	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	62	0.00	0	C	NM_001880		175979570	175979570	-1	no_errors	ENST00000264110	ensembl	human	known	69_37n	missense	60	24.05	19	SNP	1.000	G
BCORL1	63035	genome.wustl.edu	37	X	129149946	129149946	+	Silent	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chrX:129149946C>T	ENST00000218147.7	+	4	3395	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	BCORL1_ENST00000359304.2_Silent_p.F1066F|BCORL1_ENST00000540052.1_Silent_p.F1066F|BCORL1_ENST00000303743.5_Silent_p.F1066F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1066					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACCTGCTTCCGGGCTGATG	0.597																																						dbGAP											0													72.0	62.0	66.0					X																	129149946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3198C>T	X.37:g.129149946C>T			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	NULL	p.P502S	ENST00000218147.7	37	c.1504	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	4.183	0.032655	0.08101	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.17	4.3	0.51218	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42666	-0.9438	4	.	.	.	-7.7489	3.388	0.07278	0.2616:0.5017:0.1484:0.0883	.	.	.	.	S	502	.	.	P	+	1	0	BCORL1	128977627	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	0.558000	0.23469	0.965000	0.38133	0.529000	0.55759	CCG	BCORL1	-	NULL	ENSG00000085185		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	30	0.00	0	C	NM_021946		129149946	129149946	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441294	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2794920	2794920	+	Silent	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr12:2794920C>T	ENST00000347598.4	+	46	5736	c.5736C>T	c.(5734-5736)gaC>gaT	p.D1912D	CACNA1C_ENST00000399641.1_Silent_p.D1864D|CACNA1C_ENST00000399621.1_Silent_p.D1883D|CACNA1C_ENST00000335762.5_Silent_p.D1889D|CACNA1C_ENST00000399617.1_Silent_p.D1899D|CACNA1C_ENST00000406454.3_Silent_p.D1935D|CACNA1C_ENST00000327702.7_Silent_p.D1899D|CACNA1C_ENST00000399649.1_Silent_p.D1870D|CACNA1C_ENST00000399644.1_Silent_p.D1864D|CACNA1C_ENST00000399601.1_Silent_p.D1864D|CACNA1C_ENST00000399603.1_Silent_p.D1864D|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Silent_p.D1883D|CACNA1C_ENST00000399595.1_Silent_p.D1872D|CACNA1C_ENST00000344100.3_Silent_p.D1905D|CACNA1C_ENST00000399655.1_Silent_p.D1864D|CACNA1C_ENST00000399591.1_Silent_p.D1872D|CACNA1C_ENST00000399629.1_Silent_p.D1881D|CACNA1C_ENST00000399597.1_Silent_p.D1864D|CACNA1C_ENST00000399606.1_Silent_p.D1884D|CACNA1C_ENST00000399634.1_Silent_p.D1935D|CACNA1C_ENST00000402845.3_Silent_p.D1883D|CACNA1C_ENST00000399638.1_Silent_p.D1892D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1947					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAGGATGACGAAAATCGGC	0.592																																						dbGAP											0													47.0	47.0	47.0					12																	2794920		2013	4163	6176	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5736C>T	12.37:g.2794920C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.D1935	ENST00000347598.4	37	c.5805	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	22	0.00	0	C	NM_000719		2794920	2794920	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	0.829	T
CASC4	113201	genome.wustl.edu	37	15	44673139	44673139	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr15:44673139A>G	ENST00000345795.2	+	8	1307	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	CASC4_ENST00000299957.6_Missense_Mutation_p.K346R|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	346						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CAGGCTACCAAGGACAGAGTC	0.338																																						dbGAP											0													63.0	57.0	59.0					15																	44673139		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.1037A>G	15.37:g.44673139A>G	ENSP00000335063:p.Lys346Arg		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.K346R	ENST00000345795.2	37	c.1037	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	A	9.784	1.176004	0.21704	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	5.24	2.86	0.33363	.	0.492593	0.23971	N	0.042770	T	0.28830	0.0715	N	0.14661	0.345	0.80722	D	1	P;B;B	0.45474	0.859;0.003;0.018	B;B;B	0.43155	0.41;0.005;0.023	T	0.02471	-1.1154	9	0.30854	T	0.27	.	6.8618	0.24072	0.8105:0.0:0.1895:0.0	.	346;346;346	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	R	346;346;325	.	ENSP00000299957:K346R	K	+	2	0	CASC4	42460431	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	1.868000	0.39509	0.297000	0.22615	0.397000	0.26171	AAG	CASC4	-	NULL	ENSG00000166734		0.338	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	HGNC	protein_coding	OTTHUMT00000253816.1	49	0.00	0	A	NM_138423		44673139	44673139	+1	no_errors	ENST00000299957	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	G
CDH1	999	genome.wustl.edu	37	16	68842661	68842662	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr16:68842661_68842662insC	ENST00000261769.5	+	5	788_789	c.597_598insC	c.(598-600)cccfs	p.P200fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.P200fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	200	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGCTGACACACCCCCTGTTGG	0.416			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.602dupC	16.37:g.68842666_68842666dupC	ENSP00000261769:p.Pro200fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V201fs	ENST00000261769.5	37	c.597_598	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.416	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	37	0.00	0	-	NM_004360		68842661	68842662	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	24	33.33	12	INS	0.000:0.992	C
CES1	1066	genome.wustl.edu	37	16	55862883	55862883	+	Splice_Site	SNP	C	C	A	rs3826190		TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr16:55862883C>A	ENST00000361503.4	-	2	183	c.53G>T	c.(52-54)gGg>gTg	p.G18V	CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Splice_Site_p.G18V|CES1_ENST00000360526.3_Missense_Mutation_p.G19V			P23141	EST1_HUMAN	carboxylesterase 1	18			G -> GA.		epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.G19V(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GGACGGATGCCCTGCTGGACA	0.522																																					NSCLC(162;1801 2756 42904 52896)	dbGAP											1	Substitution - Missense(1)	prostate(1)											38.0	29.0	32.0					16																	55862883		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.53-1G>T	16.37:g.55862883C>A			A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G19V	ENST00000361503.4	37	c.56	CCDS45488.1	16	804	0.36813186813186816	220	0.44715447154471544	142	0.39226519337016574	112	0.1958041958041958	330	0.43535620052770446	.	18.35	3.604104	0.66445	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.66995	-0.24;-0.17;-0.17	4.48	3.52	0.40303	Carboxylesterase, type B (1);	8.429180	0.00357	N	0.000020	T	0.00012	0.0000	M	0.64080	1.96	0.58432	D	0.999993	D;D;D	0.63046	0.992;0.992;0.972	D;D;P	0.70487	0.969;0.958;0.891	T	0.53556	-0.8422	10	0.72032	D	0.01	.	9.5301	0.39189	0.0:0.8943:0.0:0.1057	rs3826190	18;18;19	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	19;18;18	ENSP00000353720:G19V;ENSP00000355193:G18V;ENSP00000390492:G18V	ENSP00000353720:G19V	G	-	2	0	CES1	54420384	0.940000	0.31905	0.780000	0.31762	0.099000	0.18886	1.881000	0.39638	2.051000	0.60960	0.393000	0.25936	GGG	CES1	-	pfam_CarbesteraseB	ENSG00000198848		0.522	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	32	0.00	0	C	NM_001266	Missense_Mutation	55862883	55862883	-1	no_errors	ENST00000360526	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.976	A
COL27A1	85301	genome.wustl.edu	37	9	117063987	117063987	+	Missense_Mutation	SNP	C	C	A	rs145219312		TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr9:117063987C>A	ENST00000356083.3	+	55	5226	c.4835C>A	c.(4834-4836)cCc>cAc	p.P1612H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1612	Collagen-like 16.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGGCGGCCCGGCCCCCCG	0.617																																						dbGAP											0													30.0	33.0	32.0					9																	117063987		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4835C>A	9.37:g.117063987C>A	ENSP00000348385:p.Pro1612His		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.P1612H	ENST00000356083.3	37	c.4835	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982381	0.34942	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96168	-3.93	5.47	4.56	0.56223	.	.	.	.	.	D	0.96965	0.9009	M	0.92219	3.285	0.24069	N	0.995986	P	0.52316	0.952	P	0.51266	0.664	D	0.92655	0.6136	9	0.66056	D	0.02	.	9.181	0.37141	0.1658:0.6742:0.16:0.0	.	1612	Q8IZC6	CORA1_HUMAN	H	1612	ENSP00000348385:P1612H	ENSP00000348385:P1612H	P	+	2	0	COL27A1	116103808	0.986000	0.35501	0.252000	0.24328	0.855000	0.48748	3.738000	0.55067	1.280000	0.44463	0.462000	0.41574	CCC	COL27A1	-	pfam_Collagen	ENSG00000196739		0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	20	0.00	0	C	NM_032888		117063987	117063987	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.362	A
CPEB3	22849	genome.wustl.edu	37	10	93870935	93870935	+	Silent	SNP	C	C	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr10:93870935C>A	ENST00000265997.4	-	7	1642	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	CPEB3_ENST00000412050.4_Silent_p.L476L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	490	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|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)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CCTCTTGGAACAGCAGAAAGG	0.428																																						dbGAP											0													158.0	160.0	159.0					10																	93870935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1470G>T	10.37:g.93870935C>A			Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L490	ENST00000265997.4	37	c.1470	CCDS31246.1	10																																																																																			CPEB3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000107864		0.428	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	59	0.00	0	C	NM_014912		93870935	93870935	-1	no_errors	ENST00000265997	ensembl	human	known	69_37n	silent	39	23.53	12	SNP	0.992	A
DDX23	9416	genome.wustl.edu	37	12	49233677	49233677	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr12:49233677G>C	ENST00000308025.3	-	5	509	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	144	Glu-rich.				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						AGCTCCTCCAGGGATAATGGC	0.443																																						dbGAP											0													92.0	90.0	91.0					12																	49233677		2203	4300	6503	-	-	-	SO:0001583	missense	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.430C>G	12.37:g.49233677G>C	ENSP00000310723:p.Leu144Val		B2R600|B4DH15|O43188	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.L144V	ENST00000308025.3	37	c.430	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316364	0.60524	.	.	ENSG00000174243	ENST00000308025;ENST00000552512	T	0.21734	1.99	6.02	0.052	0.14300	.	0.000000	0.64402	D	0.000001	T	0.21267	0.0512	N	0.16602	0.42	0.54753	D	0.999987	P	0.52842	0.956	P	0.62184	0.899	T	0.01715	-1.1289	9	.	.	.	-9.7374	9.0999	0.36662	0.4403:0.0:0.5597:0.0	.	144	Q9BUQ8	DDX23_HUMAN	V	144	ENSP00000310723:L144V	.	L	-	1	2	DDX23	47519944	1.000000	0.71417	0.852000	0.33557	0.987000	0.75469	1.740000	0.38228	-0.246000	0.09611	-0.141000	0.14075	CTG	DDX23	-	NULL	ENSG00000174243		0.443	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	53	0.00	0	G	NM_004818		49233677	49233677	-1	no_errors	ENST00000308025	ensembl	human	known	69_37n	missense	36	37.93	22	SNP	0.833	C
EXOC7	23265	genome.wustl.edu	37	17	74084181	74084182	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr17:74084181_74084182delTT	ENST00000335146.7	-	12	1527_1528	c.1474_1475delAA	c.(1474-1476)aacfs	p.N492fs	EXOC7_ENST00000405575.4_Frame_Shift_Del_p.N464fs|EXOC7_ENST00000411744.2_Frame_Shift_Del_p.N433fs|EXOC7_ENST00000589210.1_Frame_Shift_Del_p.N441fs|EXOC7_ENST00000467929.2_Frame_Shift_Del_p.N400fs|EXOC7_ENST00000607838.1_Frame_Shift_Del_p.N464fs|EXOC7_ENST00000332065.5_Frame_Shift_Del_p.N410fs			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	492					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTCGGCATGTTGTACTCCTTG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1474_1475delAA	17.37:g.74084181_74084182delTT	ENSP00000334100:p.Asn492fs		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Frame_Shift_Del	DEL	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.N492fs	ENST00000335146.7	37	c.1475_1474	CCDS45782.1	17																																																																																			EXOC7	-	pfam_Exo70,superfamily_Cullin_repeat-like_dom	ENSG00000182473		0.639	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	14	0.00	0	TT	NM_015219		74084181	74084182	-1	no_errors	ENST00000335146	ensembl	human	known	69_37n	frame_shift_del	12	25.00	4	DEL	1.000:1.000	-
FAM153C	653316	genome.wustl.edu	37	5	177434006	177434006	+	5'UTR	SNP	G	G	T	rs113892656		TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr5:177434006G>T	ENST00000507848.1	+	0	34				FAM153C_ENST00000398106.2_5'Flank			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCAGTGTCGCTGCTGAAGG	0.647																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.-168G>T	5.37:g.177434006G>T			A4IF33|B2RUV5|B7ZW12	RNA	SNP	-	NULL	ENST00000507848.1	37	NULL		5																																																																																			FAM153C	-	-	ENSG00000204677		0.647	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	FAM153C	HGNC	protein_coding	OTTHUMT00000373556.1	9	0.00	0	G	NM_001079527		177434006	177434006	+1	no_errors	ENST00000508839	ensembl	human	known	69_37n	rna	9	40.00	6	SNP	0.055	T
FAM86B1	85002	genome.wustl.edu	37	8	12044217	12044217	+	Missense_Mutation	SNP	G	G	C	rs201723492	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr8:12044217G>C	ENST00000448228.2	-	4	415	c.366C>G	c.(364-366)ttC>ttG	p.F122L	FAM86B1_ENST00000321602.8_Nonsense_Mutation_p.S17*|FAM86B1_ENST00000533513.1_Missense_Mutation_p.F156L|FAM86B1_ENST00000534520.1_Missense_Mutation_p.F122L|FAM86B1_ENST00000533852.2_Missense_Mutation_p.F156L	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	122										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		ACCTGTTAATGAAGGCTGCCG	0.612																																						dbGAP											0													1.0	1.0	1.0					8																	12044217		903	2043	2946	-	-	-	SO:0001583	missense	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.366C>G	8.37:g.12044217G>C	ENSP00000407067:p.Phe122Leu			Nonsense_Mutation	SNP	NULL	p.S17*	ENST00000448228.2	37	c.50	CCDS59512.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	22.4|22.4	4.291472|4.291472	0.80914|0.80914	.|.	.|.	ENSG00000186523|ENSG00000186523	ENST00000431227;ENST00000340537;ENST00000448228;ENST00000534520;ENST00000526708;ENST00000524571;ENST00000533513|ENST00000321602;ENST00000526802	T;T;T;T;T|.	0.30448|.	1.97;2.38;1.97;1.68;1.53|.	1.17|1.17	0.24|0.24	0.15489|0.15489	.|.	.|.	.|.	.|.	.|.	T|.	0.53706|.	0.1813|.	L|L	0.48877|0.48877	1.53|1.53	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.89917|.	0.991;1.0|.	D;D|.	0.91635|.	0.978;0.999|.	T|.	0.51364|.	-0.8715|.	9|.	0.51188|0.62326	T|D	0.08|0.03	.|.	5.4654|5.4654	0.16639|0.16639	0.2152:0.0:0.7848:0.0|0.2152:0.0:0.7848:0.0	.|.	122;156|.	Q8N7N1;E9PN63|.	F86B1_HUMAN;.|.	L|X	156;122;122;122;156;94;156|17;118	ENSP00000342610:F122L;ENSP00000407067:F122L;ENSP00000431362:F122L;ENSP00000432790:F94L;ENSP00000435201:F156L|.	ENSP00000342610:F122L|ENSP00000439686:S17X	F|S	-|-	3|2	2|0	FAM86B1|FAM86B1	12081626|12081626	0.975000|0.975000	0.34042|0.34042	0.013000|0.013000	0.15412|0.15412	0.067000|0.067000	0.16453|0.16453	1.663000|1.663000	0.37429|0.37429	0.068000|0.068000	0.16574|0.16574	0.173000|0.173000	0.16961|0.16961	TTC|TCA	FAM86B1	-	NULL	ENSG00000186523		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	13	0.00	0	G	NM_032916		12044217	12044217	-1	no_errors	ENST00000321602	ensembl	human	known	69_37n	nonsense	9	30.77	4	SNP	0.804	C
FZD10	11211	genome.wustl.edu	37	12	130648881	130648881	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr12:130648881A>G	ENST00000229030.4	+	1	1878	c.1394A>G	c.(1393-1395)gAa>gGa	p.E465G	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Silent_p.R432R			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	465					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)		TACTTTTACGAACGCCTCAAC	0.552																																						dbGAP											0													111.0	109.0	109.0					12																	130648881		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.1394A>G	12.37:g.130648881A>G	ENSP00000229030:p.Glu465Gly			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.E465G	ENST00000229030.4	37	c.1394	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128066	0.77549	.	.	ENSG00000111432	ENST00000229030	D	0.86164	-2.08	5.1	5.1	0.69264	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.95497	0.8537	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96918	0.9672	10	0.87932	D	0	.	14.8734	0.70478	1.0:0.0:0.0:0.0	.	465	Q9ULW2	FZD10_HUMAN	G	465	ENSP00000229030:E465G	ENSP00000229030:E465G	E	+	2	0	FZD10	129214834	1.000000	0.71417	0.985000	0.45067	0.916000	0.54674	9.122000	0.94380	1.911000	0.55334	0.459000	0.35465	GAA	FZD10	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000111432		0.552	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		41	0.00	0	A			130648881	130648881	+1	no_errors	ENST00000229030	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	G
GDF5OS	554250	genome.wustl.edu	37	20	34022672	34022672	+	Missense_Mutation	SNP	C	C	A	rs224332	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr20:34022672C>A	ENST00000374375.1	+	2	1158	c.716C>A	c.(715-717)cCg>cAg	p.P239Q	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	239						mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						GCTCTCTCCCCGTCCAGAGAG	0.547													C|||	817	0.163139	0.2284	0.0533	5008	,	,		16944	0.1865		0.0577	False		,,,				2504	0.2372					dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.716C>A	20.37:g.34022672C>A	ENSP00000363495:p.Pro239Gln		A6PVI8	Missense_Mutation	SNP	NULL	p.P239Q	ENST00000374375.1	37	c.716		20	270	0.12362637362637363	113	0.22967479674796748	24	0.06629834254143646	86	0.15034965034965034	47	0.06200527704485488	C	0.012	-1.678059	0.00751	.	.	ENSG00000204183	ENST00000374375	.	.	.	2.94	1.92	0.25849	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.50313	P	1.36000000000025E-4	.	.	.	.	.	.	T	0.08785	-1.0705	4	0.87932	D	0	.	8.9928	0.36035	0.2227:0.7773:0.0:0.0	rs224332;rs224332	.	.	.	Q	239	.	ENSP00000363495:P239Q	P	+	2	0	GDF5OS	33486086	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	0.095000	0.15127	0.759000	0.33084	0.561000	0.74099	CCG	GDF5OS	-	NULL	ENSG00000204183		0.547	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	GDF5OS	HGNC	protein_coding	OTTHUMT00000125987.3	8	0.00	0	C			34022672	34022672	+1	no_errors	ENST00000374375	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.039	A
GRM4	2914	genome.wustl.edu	37	6	34100808	34100808	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr6:34100808C>T	ENST00000538487.2	-	2	909	c.466G>A	c.(466-468)Gct>Act	p.A156T	GRM4_ENST00000374181.4_Missense_Mutation_p.A156T|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	156					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCCCTGAAGCACCGATGACA	0.607																																						dbGAP											0													80.0	66.0	71.0					6																	34100808		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.466G>A	6.37:g.34100808C>T	ENSP00000440556:p.Ala156Thr		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.A156T	ENST00000538487.2	37	c.466	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.133892	0.94517	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.83914	-1.78;-1.78	4.29	4.29	0.51040	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.91043	0.7182	M	0.88310	2.945	0.80722	D	1	P;D;D	0.69078	0.616;0.997;0.997	P;D;D	0.83275	0.74;0.996;0.996	D	0.91998	0.5608	10	0.52906	T	0.07	.	16.5082	0.84278	0.0:1.0:0.0:0.0	.	156;156;156	B7ZLU9;A1L4F9;Q14833	.;.;GRM4_HUMAN	T	156	ENSP00000363296:A156T;ENSP00000440556:A156T	ENSP00000363296:A156T	A	-	1	0	GRM4	34208786	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.615000	0.83006	2.230000	0.72887	0.467000	0.42956	GCT	GRM4	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	ENSG00000124493		0.607	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	14	0.00	0	C			34100808	34100808	-1	no_errors	ENST00000374181	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	T
HMHA1	23526	genome.wustl.edu	37	19	1073548	1073548	+	Silent	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr19:1073548C>T	ENST00000313093.2	+	4	840	c.609C>T	c.(607-609)ttC>ttT	p.F203F	HMHA1_ENST00000543365.1_Silent_p.F86F|HMHA1_ENST00000536472.1_Silent_p.F43F|HMHA1_ENST00000539243.2_Silent_p.F219F|HMHA1_ENST00000586866.1_Silent_p.F207F|HMHA1_ENST00000590214.1_Silent_p.F230F	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	203					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AACAGGAGTTCGAGAAGGCCC	0.602																																						dbGAP											0													59.0	52.0	55.0					19																	1073548		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.609C>T	19.37:g.1073548C>T			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.F203	ENST00000313093.2	37	c.609	CCDS32863.1	19																																																																																			HMHA1	-	NULL	ENSG00000180448		0.602	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	16	0.00	0	C			1073548	1073548	+1	no_errors	ENST00000313093	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	0.923	T
HSD17B10	3028	genome.wustl.edu	37	X	53458209	53458210	+	3'UTR	DEL	TG	TG	-			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chrX:53458209_53458210delTG	ENST00000168216.6	-	0	955_956				HSD17B10_ENST00000495986.1_5'Flank|HSD17B10_ENST00000375304.5_3'UTR|HSD17B10_ENST00000375298.4_Intron|RP3-339A18.6_ENST00000418049.1_RNA	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						GCCTACACTCTGTGAGAAAAAG	0.54																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.*143CA>-	X.37:g.53458211_53458212delTG			Q5H927|Q6IBS9|Q8TCV9|Q96HD5	RNA	DEL	-	NULL	ENST00000168216.6	37	NULL	CCDS14354.1	X																																																																																			HSD17B10	-	-	ENSG00000072506		0.540	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B10	HGNC	protein_coding	OTTHUMT00000056750.1	9	0.00	0	TG	NM_004493		53458209	53458210	-1	no_errors	ENST00000477706	ensembl	human	known	69_37n	rna	6	33.33	3	DEL	0.001:0.000	-
HTRA1	5654	genome.wustl.edu	37	10	124273799	124273799	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr10:124273799G>T	ENST00000368984.3	+	9	1495	c.1367G>T	c.(1366-1368)aGc>aTc	p.S456I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	456	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAAAGGGAAAGCACCCTGAAC	0.488																																						dbGAP											0													222.0	196.0	205.0					10																	124273799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1367G>T	10.37:g.124273799G>T	ENSP00000357980:p.Ser456Ile		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.S456I	ENST00000368984.3	37	c.1367	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176669	0.57692	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.83419	-1.72;-1.72	5.48	-1.69	0.08186	PDZ/DHR/GLGF (2);	0.683740	0.16380	N	0.216946	D	0.84902	0.5575	M	0.72118	2.19	0.26118	N	0.980585	B	0.29571	0.249	P	0.44772	0.46	T	0.80874	-0.1187	10	0.62326	D	0.03	-14.2944	11.345	0.49554	0.5133:0.0:0.4867:0.0	.	456	Q92743	HTRA1_HUMAN	I	456;423;197	ENSP00000357980:S456I;ENSP00000412676:S197I	ENSP00000357980:S456I	S	+	2	0	HTRA1	124263789	0.756000	0.28383	0.291000	0.24904	0.934000	0.57294	0.234000	0.17930	-0.339000	0.08401	-0.136000	0.14681	AGC	HTRA1	-	superfamily_PDZ,smart_PDZ	ENSG00000166033		0.488	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	34	0.00	0	G	NM_002775		124273799	124273799	+1	no_errors	ENST00000368984	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.412	T
IGHV6-1	28385	genome.wustl.edu	37	14	106406031	106406031	+	RNA	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr14:106406031A>G	ENST00000390593.2	-	0	77									immunoglobulin heavy variable 6-1																		CAGCACGGGCAGGAAGATGAG	0.562																																						dbGAP											0													56.0	59.0	58.0					14																	106406031		1980	4147	6127	-	-	-			0			X92224		14q32.33	2012-02-08			ENSG00000211933	ENSG00000211933		"""Immunoglobulins / IGH locus"""	5662	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152324		14.37:g.106406031A>G				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L9P	ENST00000390593.2	37	c.26		14																																																																																			IGHV6-1	-	NULL	ENSG00000211933		0.562	IGHV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV6-1	HGNC	IG_V_gene	OTTHUMT00000325886.1	28	0.00	0	A	NG_001019		106406031	106406031	-1	no_stop_codon	ENST00000390593	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.010	G
IGSF1	3547	genome.wustl.edu	37	X	130416574	130416574	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chrX:130416574delG	ENST00000361420.3	-	7	1169	c.1090delC	c.(1090-1092)caafs	p.Q364fs	IGSF1_ENST00000370903.3_Frame_Shift_Del_p.Q364fs|IGSF1_ENST00000370910.1_Frame_Shift_Del_p.Q355fs|IGSF1_ENST00000370904.1_Frame_Shift_Del_p.Q355fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	364	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCAAAAATTGAAGTGGTTTG	0.463																																						dbGAP											0													192.0	158.0	170.0					X																	130416574		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1090delC	X.37:g.130416574delG	ENSP00000355010:p.Gln364fs		B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Del	DEL	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q364fs	ENST00000361420.3	37	c.1090	CCDS14629.1	X																																																																																			IGSF1	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147255		0.463	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	55	0.00	0	G			130416574	130416574	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	frame_shift_del	42	22.03	13	DEL	0.745	-
KDM5A	5927	genome.wustl.edu	37	12	406343	406343	+	Silent	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr12:406343A>G	ENST00000399788.2	-	25	4460	c.4098T>C	c.(4096-4098)tcT>tcC	p.S1366S	KDM5A_ENST00000382815.4_Silent_p.S1366S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1366					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAAGACTACTAGAGGACTTCA	0.423			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													69.0	66.0	67.0					12																	406343		1851	4099	5950	-	-	-	SO:0001819	synonymous_variant	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4098T>C	12.37:g.406343A>G			A8MV76|Q4LE72|Q86XZ1	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,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.S1366	ENST00000399788.2	37	c.4098	CCDS41736.1	12																																																																																			KDM5A	-	NULL	ENSG00000073614		0.423	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	30	0.00	0	A	NM_005056		406343	406343	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.972	G
KIF27	55582	genome.wustl.edu	37	9	86482724	86482724	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr9:86482724T>A	ENST00000297814.2	-	13	2952	c.2809A>T	c.(2809-2811)Aac>Tac	p.N937Y	RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.N871Y|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	937					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGGCGTTGGTTCAGAACTTTC	0.378																																						dbGAP											0													106.0	104.0	105.0					9																	86482724		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2809A>T	9.37:g.86482724T>A	ENSP00000297814:p.Asn937Tyr		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N937Y	ENST00000297814.2	37	c.2809	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	T	13.66	2.302784	0.40795	.	.	ENSG00000165115	ENST00000297814;ENST00000413982	T;T	0.48522	0.81;0.81	3.75	1.17	0.20885	.	0.626476	0.13724	U	0.367194	T	0.36468	0.0968	L	0.36672	1.1	0.80722	D	1	B;B	0.27416	0.178;0.112	B;B	0.26969	0.075;0.054	T	0.24083	-1.0170	10	0.54805	T	0.06	.	10.3826	0.44121	0.0:0.0:0.4527:0.5473	.	871;937	Q86VH2-2;Q86VH2	.;KIF27_HUMAN	Y	937;871	ENSP00000297814:N937Y;ENSP00000401688:N871Y	ENSP00000297814:N937Y	N	-	1	0	KIF27	85672544	0.953000	0.32496	0.998000	0.56505	0.990000	0.78478	1.518000	0.35877	0.471000	0.27319	0.254000	0.18369	AAC	KIF27	-	NULL	ENSG00000165115		0.378	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	74	0.00	0	T	NM_017576		86482724	86482724	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	missense	45	26.23	16	SNP	0.964	A
KRT32	3882	genome.wustl.edu	37	17	39623127	39623127	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr17:39623127C>T	ENST00000225899.3	-	1	554	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	151	Coil 1B.|Rod.		E -> D (in dbSNP:rs1111168). {ECO:0000269|PubMed:7556444, ECO:0000269|PubMed:8823373}.		epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGGAGCTCCTCAATGGTCCTG	0.552																																						dbGAP											0													73.0	66.0	68.0					17																	39623127		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.451G>A	17.37:g.39623127C>T	ENSP00000225899:p.Glu151Lys			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E151K	ENST00000225899.3	37	c.451	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397527	0.83120	.	.	ENSG00000108759	ENST00000225899	D	0.89123	-2.47	5.23	5.23	0.72850	Filament (1);	0.000000	0.39759	N	0.001276	D	0.94291	0.8166	M	0.76727	2.345	0.41463	D	0.988058	D	0.89917	1.0	D	0.83275	0.996	D	0.94776	0.7949	10	0.72032	D	0.01	.	18.1463	0.89656	0.0:1.0:0.0:0.0	.	151	Q14532	K1H2_HUMAN	K	151	ENSP00000225899:E151K	ENSP00000225899:E151K	E	-	1	0	KRT32	36876653	0.967000	0.33354	0.971000	0.41717	0.939000	0.58152	2.830000	0.48136	2.596000	0.87737	0.462000	0.41574	GAG	KRT32	-	pfam_F	ENSG00000108759		0.552	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	31	0.00	0	C	NM_002278		39623127	39623127	-1	no_errors	ENST00000225899	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.989	T
KYNU	8942	genome.wustl.edu	37	2	143798193	143798193	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr2:143798193A>T	ENST00000264170.4	+	13	1496	c.1238A>T	c.(1237-1239)gAt>gTt	p.D413V	KYNU_ENST00000409512.1_Missense_Mutation_p.D413V	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		CCAAACAAAGATGTTTTCCAA	0.408																																						dbGAP											0													48.0	45.0	46.0					2																	143798193		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1238A>T	2.37:g.143798193A>T	ENSP00000264170:p.Asp413Val			Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	p.D413V	ENST00000264170.4	37	c.1238	CCDS2183.1	2	.	.	.	.	.	.	.	.	.	.	A	6.137	0.393472	0.11638	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.56776	0.44;0.44	5.54	0.142	0.14816	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.373920	0.04123	N	0.316677	T	0.34106	0.0886	N	0.12637	0.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22312	-1.0220	10	0.35671	T	0.21	.	7.0404	0.25017	0.2833:0.5286:0.1881:0.0	.	413	Q16719	KYNU_HUMAN	V	413	ENSP00000264170:D413V;ENSP00000386731:D413V	ENSP00000264170:D413V	D	+	2	0	KYNU	143514663	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-0.271000	0.08572	0.378000	0.24764	0.482000	0.46254	GAT	KYNU	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Kynureninase	ENSG00000115919		0.408	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KYNU	HGNC	protein_coding	OTTHUMT00000254772.1	20	0.00	0	A	NM_001032998		143798193	143798193	+1	no_errors	ENST00000264170	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.000	T
LDB3	11155	genome.wustl.edu	37	10	88469670	88469670	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr10:88469670C>T	ENST00000361373.4	+	8	1115	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	LDB3_ENST00000263066.6_Missense_Mutation_p.A255V|LDB3_ENST00000429277.2_Missense_Mutation_p.A370V|LDB3_ENST00000458213.2_Missense_Mutation_p.A255V|LDB3_ENST00000352360.5_Splice_Site_p.A108V	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGGCCCCAGGCCTCTTCCTAC	0.687																																						dbGAP											0													26.0	28.0	27.0					10																	88469670		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1094C>T	10.37:g.88469670C>T	ENSP00000355296:p.Ala365Val			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.A370V	ENST00000361373.4	37	c.1109	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924687	0.18056	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.39	2.09	0.27110	.	0.553031	0.13656	N	0.371884	T	0.72374	0.3452	L	0.47716	1.5	0.09310	N	1	B;P;B;B	0.35272	0.008;0.493;0.041;0.013	B;B;B;B	0.33620	0.016;0.167;0.016;0.022	T	0.56498	-0.7969	10	0.17369	T	0.5	.	5.7719	0.18257	0.1196:0.4151:0.3851:0.0802	.	370;302;365;255	B4E3K3;F5H0C2;O75112;O75112-2	.;.;LDB3_HUMAN;.	V	302;370;255;108;255;365	ENSP00000401437:A370V;ENSP00000409148:A255V;ENSP00000263067:A108V;ENSP00000263066:A255V;ENSP00000355296:A365V	ENSP00000263066:A255V	A	+	2	0	LDB3	88459650	0.004000	0.15560	0.978000	0.43139	0.591000	0.36615	0.553000	0.23391	0.575000	0.29434	0.561000	0.74099	GCC	LDB3	-	NULL	ENSG00000122367		0.687	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	21	0.00	0	C			88469670	88469670	+1	no_errors	ENST00000429277	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.007	T
LPHN2	23266	genome.wustl.edu	37	1	82409249	82409249	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr1:82409249G>A	ENST00000370728.1	+	8	1639	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	LPHN2_ENST00000370717.2_Missense_Mutation_p.E332K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E332K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E332K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E332K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E332K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E332K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E332K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.E336K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E332K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E332K			O95490	LPHN2_HUMAN	latrophilin 2	332	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAAGACAATGAAAGTGAAAC	0.398																																						dbGAP											0													137.0	136.0	136.0					1																	82409249		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.994G>A	1.37:g.82409249G>A	ENSP00000359763:p.Glu332Lys		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.E332K	ENST00000370728.1	37	c.994		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.468782|4.468782	0.84533|0.84533	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.69306|.	-0.35;-0.39;-0.38;-0.32;-0.33;-0.28;-0.34;-0.35;-0.34;-0.34;-0.33;-0.28;-0.32;-0.38|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62196|0.62196	0.2408|0.2408	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;D;P|.	0.61697|.	0.846;0.99;0.94|.	P;P;P|.	0.59171|.	0.611;0.853;0.611|.	T|T	0.58154|0.58154	-0.7686|-0.7686	10|5	0.72032|.	D|.	0.01|.	.|.	19.4846|19.4846	0.95024|0.95024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	332;332;332|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	K|I	336;332;332;332;332;332;332;332;332;332;332;332;332;332|199	ENSP00000359756:E336K;ENSP00000359763:E332K;ENSP00000359765:E332K;ENSP00000359762:E332K;ENSP00000359760:E332K;ENSP00000359758:E332K;ENSP00000353006:E332K;ENSP00000359750:E332K;ENSP00000359748:E332K;ENSP00000322270:E332K;ENSP00000359752:E332K;ENSP00000378344:E332K;ENSP00000271029:E332K;ENSP00000337306:E332K|.	ENSP00000271029:E332K|.	E|M	+|+	1|3	0|0	LPHN2|LPHN2	82181837|82181837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.392000|9.392000	0.97252|0.97252	2.589000|2.589000	0.87451|0.87451	0.557000|0.557000	0.71058|0.71058	GAA|ATG	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000117114		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	51	0.00	0	G	NM_012302		82409249	82409249	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	1.000	A
MAGEE1	57692	genome.wustl.edu	37	X	75648642	75648642	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chrX:75648642A>G	ENST00000361470.2	+	1	597	c.319A>G	c.(319-321)Acc>Gcc	p.T107A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	107						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGTGCTGCCCACCCCCAGTGA	0.672																																						dbGAP											0													21.0	22.0	22.0					X																	75648642		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.319A>G	X.37:g.75648642A>G	ENSP00000354912:p.Thr107Ala		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T107A	ENST00000361470.2	37	c.319	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065455	0.36470	.	.	ENSG00000198934	ENST00000361470	T	0.10763	2.84	2.05	-0.836	0.10770	.	.	.	.	.	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	1	B	0.24132	0.098	B	0.14578	0.011	T	0.42949	-0.9421	9	0.20046	T	0.44	.	3.3122	0.07021	0.543:0.2298:0.0:0.2271	.	107	Q9HCI5	MAGE1_HUMAN	A	107	ENSP00000354912:T107A	ENSP00000354912:T107A	T	+	1	0	MAGEE1	75565046	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.279000	0.08479	-0.282000	0.09128	-0.553000	0.04205	ACC	MAGEE1	-	NULL	ENSG00000198934		0.672	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	10	0.00	0	A	NM_020932		75648642	75648642	+1	no_errors	ENST00000361470	ensembl	human	known	69_37n	missense	15	23.81	5	SNP	0.003	G
MAP4K4	9448	genome.wustl.edu	37	2	102445999	102445999	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr2:102445999C>T	ENST00000347699.4	+	6	451	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	MAP4K4_ENST00000302217.5_Missense_Mutation_p.H151Y|MAP4K4_ENST00000425019.1_Missense_Mutation_p.H151Y|MAP4K4_ENST00000350198.4_Missense_Mutation_p.H151Y|MAP4K4_ENST00000324219.4_Missense_Mutation_p.H151Y|MAP4K4_ENST00000413150.2_Missense_Mutation_p.H151Y|MAP4K4_ENST00000456652.1_Missense_Mutation_p.H151Y|MAP4K4_ENST00000350878.4_Missense_Mutation_p.H131Y	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCATGTGATTCACCGGGATAT	0.448																																						dbGAP											0													116.0	114.0	115.0					2																	102445999		2007	4170	6177	-	-	-	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.451C>T	2.37:g.102445999C>T	ENSP00000314363:p.His151Tyr		O75172|Q9NST7	Missense_Mutation	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.H151Y	ENST00000347699.4	37	c.451	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681244	0.88542	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;0.65	6.06	6.06	0.98353	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	D	0.85758	0.5771	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.962;1.0;0.982;0.993;1.0;0.977;0.977	D;D;D;P;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.895;1.0;0.971;0.98;1.0;0.951;0.951	D	0.88038	0.2779	10	0.87932	D	0	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	131;151;131;151;151;151;151;151;151;151	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	Y	151;151;151;151;151;151;151;113;131	ENSP00000392830:H151Y;ENSP00000313644:H151Y;ENSP00000281111:H151Y;ENSP00000303600:H151Y;ENSP00000389752:H151Y;ENSP00000387370:H151Y;ENSP00000314363:H151Y;ENSP00000409720:H113Y;ENSP00000343658:H131Y	ENSP00000303600:H151Y	H	+	1	0	MAP4K4	101812431	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.731000	0.84895	2.879000	0.98667	0.650000	0.86243	CAC	MAP4K4	-	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	ENSG00000071054		0.448	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	49	0.00	0	C	NM_004834		102445999	102445999	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	T
MARCH8	220972	genome.wustl.edu	37	10	45956741	45956741	+	Missense_Mutation	SNP	G	G	A	rs200386692		TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr10:45956741G>A	ENST00000319836.3	-	5	1110	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	MARCH8_ENST00000453424.2_Missense_Mutation_p.R403C|MARCH8_ENST00000395769.2_Missense_Mutation_p.R121C|MARCH8_ENST00000395771.3_Missense_Mutation_p.R121C|MARCH8_ENST00000476962.1_5'UTR	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	121					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TCGCAGCAGCGCGTGTCGGAG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19996	0.001		0.0	False		,,,				2504	0.0				NSCLC(102;658 1594 2173 16344 34808)	dbGAP											0													73.0	67.0	69.0					10																	45956741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.361C>T	10.37:g.45956741G>A	ENSP00000317087:p.Arg121Cys		B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.R121C	ENST00000319836.3	37	c.361	CCDS7213.1	10	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	27.4|27.4	4.825991|4.825991	0.90955|0.90955	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000453424|ENST00000395771;ENST00000319836;ENST00000395769	.|T;T;T	.|0.44482	.|0.92;0.92;0.92	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68495|0.68495	0.3007|0.3007	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.976	T|T	0.70824|0.70824	-0.4767|-0.4767	5|10	.|0.62326	.|D	.|0.03	-15.2186|-15.2186	17.7332|17.7332	0.88384|0.88384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|121;285	.|Q5T0T0;Q5JQ16	.|MARH8_HUMAN;.	V|C	285|121	.|ENSP00000379118:R121C;ENSP00000317087:R121C;ENSP00000379116:R121C	.|ENSP00000317087:R121C	A|R	-|-	2|1	0|0	MARCH8|MARCH8	45276747|45276747	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.617000|0.617000	0.37484|0.37484	6.581000|6.581000	0.74045|0.74045	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GCG|CGC	MARCH8	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	ENSG00000165406		0.572	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH8	HGNC	protein_coding	OTTHUMT00000051217.1	37	0.00	0	G	NM_145021		45956741	45956741	-1	no_errors	ENST00000319836	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100643060	100643060	+	Silent	SNP	T	T	A	rs147467999		TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr7:100643060T>A	ENST00000379442.3	+	5	9645	c.9645T>A	c.(9643-9645)gtT>gtA	p.V3215V	MUC12_ENST00000536621.1_Silent_p.V3072V			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3215	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						CAACCTCAGTTCTTGTTGGAG	0.527																																						dbGAP											0													1.0	1.0	1.0					7																	100643060		135	351	486	-	-	-	SO:0001819	synonymous_variant	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.9645T>A	7.37:g.100643060T>A			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.V3215	ENST00000379442.3	37	c.9645		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	12	0.00	0	T	XM_379904		100643060	100643060	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	13	38.10	8	SNP	0.000	A
MYT1L	23040	genome.wustl.edu	37	2	1907062	1907062	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr2:1907062T>A	ENST00000399161.2	-	14	2569	c.1822A>T	c.(1822-1824)Atg>Ttg	p.M608L	MYT1L_ENST00000428368.2_Missense_Mutation_p.M606L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	608					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACAAAGCACATTGGCCTGGAA	0.433																																						dbGAP											0													57.0	53.0	54.0					2																	1907062		1970	4164	6134	-	-	-	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1822A>T	2.37:g.1907062T>A	ENSP00000382114:p.Met608Leu		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.M608L	ENST00000399161.2	37	c.1822		2	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250698	0.59212	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.47177	0.85;0.85	5.51	5.51	0.81932	.	0.036503	0.85682	D	0.000000	T	0.45256	0.1333	L	0.61218	1.895	0.80722	D	1	B;B	0.32365	0.006;0.367	B;B	0.24541	0.004;0.054	T	0.45425	-0.9262	10	0.48119	T	0.1	-42.242	15.6256	0.76855	0.0:0.0:0.0:1.0	.	608;606	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	608;554;606	ENSP00000382114:M608L;ENSP00000396103:M606L	ENSP00000295067:M554L	M	-	1	0	MYT1L	1886069	1.000000	0.71417	0.991000	0.47740	0.655000	0.38815	7.777000	0.85628	2.101000	0.63845	0.459000	0.35465	ATG	MYT1L	-	NULL	ENSG00000186487		0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	54	0.00	0	T	NM_015025		1907062	1907062	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	A
NBPF1	55672	genome.wustl.edu	37	1	16932783	16932783	+	Intron	SNP	G	G	C	rs2501759	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr1:16932783G>C	ENST00000430580.2	-	2	422					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		atggtgagtggttgtcagggg	0.453													.|||	853	0.170327	0.1415	0.2565	5008	,	,		84080	0.0129		0.2416	False		,,,				2504	0.2372					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.465+2219C>G	1.37:g.16932783G>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.453	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	13	0.00	0	G	NM_017940		16932783	16932783	-1	no_errors	ENST00000449853	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.003	C
PARP4	143	genome.wustl.edu	37	13	25058867	25058867	+	Missense_Mutation	SNP	C	C	T	rs143070451	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr13:25058867C>T	ENST00000381989.3	-	12	1477	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	458	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		TCTTCCACTACTTTGGGTAAA	0.453																																						dbGAP											0													136.0	138.0	137.0					13																	25058867		2203	4297	6500	-	-	-	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.1372G>A	13.37:g.25058867C>T	ENSP00000371419:p.Val458Ile		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.V458I	ENST00000381989.3	37	c.1372	CCDS9307.1	13	47	0.02152014652014652	23	0.046747967479674794	2	0.0055248618784530384	7	0.012237762237762238	15	0.01978891820580475	C	16.65	3.183039	0.57800	.	.	ENSG00000102699	ENST00000381989	T	0.13901	2.55	4.35	3.4	0.38934	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.162995	0.39985	N	0.001218	T	0.01523	0.0049	L	0.41906	1.305	0.26728	N	0.970657	P	0.37708	0.606	B	0.39904	0.313	T	0.12528	-1.0544	10	0.42905	T	0.14	-16.8693	5.0719	0.14611	0.0:0.7642:0.0:0.2358	.	458	Q9UKK3	PARP4_HUMAN	I	458	ENSP00000371419:V458I	ENSP00000371419:V458I	V	-	1	0	PARP4	23956867	0.210000	0.23517	0.999000	0.59377	0.973000	0.67179	0.932000	0.28884	2.229000	0.72834	0.650000	0.86243	GTA	PARP4	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000102699		0.453	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	50	0.00	0	C	NM_006437		25058867	25058867	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.992	T
PARPBP	55010	genome.wustl.edu	37	12	102589977	102589977	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr12:102589977A>G	ENST00000358383.5	+	11	1693	c.1648A>G	c.(1648-1650)Aaa>Gaa	p.K550E	PARPBP_ENST00000327680.2_Missense_Mutation_p.K469E|PARPBP_ENST00000392911.2_Missense_Mutation_p.K469E|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000541394.1_Missense_Mutation_p.K627E			Q9NWS1	PARI_HUMAN	PARP1 binding protein	550					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ATTGTACGGCAAACTAGCTAA	0.318																																						dbGAP											0													72.0	75.0	74.0					12																	102589977		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1648A>G	12.37:g.102589977A>G	ENSP00000351153:p.Lys550Glu		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	NULL	p.K550E	ENST00000358383.5	37	c.1648	CCDS9090.2	12	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571851	0.28003	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.05	3.9	0.45041	.	0.368951	0.28595	N	0.014793	T	0.40448	0.1117	M	0.70275	2.135	0.09310	N	0.999993	B;B;B	0.27351	0.176;0.019;0.019	B;B;B	0.21917	0.037;0.027;0.015	T	0.39482	-0.9612	10	0.59425	D	0.04	-5.9823	9.5355	0.39220	0.9195:0.0:0.0805:0.0	.	627;265;550	B4DZ31;Q9NWS1-5;Q9NWS1	.;.;PR1BP_HUMAN	E	469;627;550;469	ENSP00000332915:K469E;ENSP00000440850:K627E;ENSP00000351153:K550E;ENSP00000376643:K469E	ENSP00000332915:K469E	K	+	1	0	C12orf48	101114107	0.998000	0.40836	0.063000	0.19743	0.123000	0.20343	3.900000	0.56295	0.880000	0.35969	0.533000	0.62120	AAA	PARPBP	-	NULL	ENSG00000185480		0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	39	0.00	0	A	NM_017915		102589977	102589977	+1	no_errors	ENST00000358383	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.062	G
PCDHA5	56143	genome.wustl.edu	37	5	140201501	140201501	+	Silent	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr5:140201501C>T	ENST00000529859.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.I47I|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.I47I|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	47	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(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCCGCATCGCGCAGGACC	0.647																																						dbGAP											0													57.0	65.0	62.0					5																	140201501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.141C>T	5.37:g.140201501C>T			O75284|Q8N4R3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I47	ENST00000529859.1	37	c.141	CCDS54917.1	5																																																																																			PCDHA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204965		0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	24	0.00	0	C	NM_018908		140201501	140201501	+1	no_errors	ENST00000529859	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.997	T
PEA15	8682	genome.wustl.edu	37	1	160183048	160183048	+	Silent	SNP	G	G	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr1:160183048G>A	ENST00000360472.4	+	3	509	c.321G>A	c.(319-321)aaG>aaA	p.K107K	PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Silent_p.K85K|PEA15_ENST00000368076.1_Silent_p.K128K	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	107	Microtubule-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCCAAGAAGTACAAAGGTA	0.522																																						dbGAP											0													135.0	111.0	119.0					1																	160183048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.321G>A	1.37:g.160183048G>A			B1AKZ3|O00511	Silent	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.K128	ENST00000360472.4	37	c.384	CCDS1199.1	1																																																																																			PEA15	-	superfamily_DEATH-like	ENSG00000162734		0.522	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEA15	HGNC	protein_coding	OTTHUMT00000077407.1	38	0.00	0	G	NM_003768		160183048	160183048	+1	no_errors	ENST00000368076	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	1.000	A
PKHD1	5314	genome.wustl.edu	37	6	51890742	51890742	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr6:51890742T>C	ENST00000371117.3	-	32	4141	c.3866A>G	c.(3865-3867)aAa>aGa	p.K1289R	PKHD1_ENST00000340994.4_Missense_Mutation_p.K1289R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1289	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTGAAGCCTTTCCCCACCAA	0.572																																						dbGAP											0													91.0	81.0	84.0					6																	51890742		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3866A>G	6.37:g.51890742T>C	ENSP00000360158:p.Lys1289Arg		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.K1289R	ENST00000371117.3	37	c.3866	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820402	0.32145	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.08;-2.27	5.69	3.15	0.36227	Cell surface receptor IPT/TIG (1);	0.930928	0.09204	N	0.834273	T	0.71753	0.3377	M	0.63428	1.95	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.60707	-0.7210	10	0.28530	T	0.3	.	6.5447	0.22400	0.0:0.0798:0.1552:0.765	.	1289;1289	P08F94-2;P08F94	.;PKHD1_HUMAN	R	1289	ENSP00000360158:K1289R;ENSP00000341097:K1289R	ENSP00000341097:K1289R	K	-	2	0	PKHD1	51998701	0.000000	0.05858	0.045000	0.18777	0.108000	0.19459	0.162000	0.16501	0.979000	0.38497	0.533000	0.62120	AAA	PKHD1	-	smart_IPT_TIG_rcpt	ENSG00000170927		0.572	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	26	0.00	0	T	NM_138694		51890742	51890742	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.001	C
POLR2B	5431	genome.wustl.edu	37	4	57889849	57889849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr4:57889849C>T	ENST00000381227.1	+	21	3201	c.2788C>T	c.(2788-2790)Cag>Tag	p.Q930*	POLR2B_ENST00000314595.5_Nonsense_Mutation_p.Q930*|POLR2B_ENST00000431623.2_Nonsense_Mutation_p.Q855*|POLR2B_ENST00000441246.2_Nonsense_Mutation_p.Q923*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	930					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TAGGATTCCACAGATTGGAGA	0.368																																						dbGAP											0													94.0	93.0	94.0					4																	57889849		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2788C>T	4.37:g.57889849C>T	ENSP00000370625:p.Gln930*		A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.Q930*	ENST00000381227.1	37	c.2788	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	C	43	9.978925	0.99309	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3953	0.60849	0.0:0.9285:0.0:0.0715	.	.	.	.	X	930;855;923;930	.	ENSP00000312735:Q930X	Q	+	1	0	POLR2B	57584606	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.807000	0.86032	2.771000	0.95319	0.563000	0.77884	CAG	POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000047315		0.368	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	33	0.00	0	C	NM_000938		57889849	57889849	+1	no_errors	ENST00000314595	ensembl	human	known	69_37n	nonsense	16	15.79	3	SNP	1.000	T
PPL	5493	genome.wustl.edu	37	16	4944581	4944581	+	Silent	SNP	C	C	T	rs144887163	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr16:4944581C>T	ENST00000345988.2	-	12	1370	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	PPL_ENST00000590782.2_Silent_p.K425K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	427					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCCGTTGTTCTTCTGCAGGG	0.662																																						dbGAP											0													108.0	85.0	93.0					16																	4944581		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1281G>A	16.37:g.4944581C>T			O60314|O60454|Q14C98	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K427	ENST00000345988.2	37	c.1281	CCDS10526.1	16																																																																																			PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.662	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	23	0.00	0	C	NM_002705		4944581	4944581	-1	no_errors	ENST00000345988	ensembl	human	known	69_37n	silent	26	31.58	12	SNP	1.000	T
PSG1	5669	genome.wustl.edu	37	19	43372959	43372959	+	Missense_Mutation	SNP	G	G	A	rs138598374	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr19:43372959G>A	ENST00000436291.2	-	4	1053	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	PSG1_ENST00000403380.3_Missense_Mutation_p.R220W|PSG1_ENST00000312439.6_Missense_Mutation_p.R313W|PSG1_ENST00000595356.1_Missense_Mutation_p.R313W|PSG1_ENST00000244296.2_Missense_Mutation_p.R313W|PSG1_ENST00000595124.1_Missense_Mutation_p.R220W	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	313	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TATCGGTCCCGTATTTCACAT	0.507																																						dbGAP											0													47.0	55.0	52.0					19																	43372959		1508	2699	4207	-	-	-	SO:0001583	missense	0				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.937C>T	19.37:g.43372959G>A	ENSP00000413041:p.Arg313Trp		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R313W	ENST00000436291.2	37	c.937	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	6.630	0.484734	0.12641	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	1.79	-3.58	0.04597	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07413	0.0187	N	0.25992	0.78	0.09310	N	1	B;B;B;B;B;B;B	0.24368	0.005;0.083;0.006;0.102;0.024;0.028;0.022	B;B;B;B;B;B;B	0.23574	0.013;0.018;0.013;0.047;0.039;0.044;0.016	T	0.35943	-0.9768	9	0.36615	T	0.2	.	3.1749	0.06565	0.3017:0.2346:0.4636:0.0	.	313;220;313;220;313;185;313	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;B4DTG5;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	W	313;220;313;313	ENSP00000413041:R313W;ENSP00000385386:R220W;ENSP00000308970:R313W;ENSP00000244296:R313W	ENSP00000244296:R313W	R	-	1	2	PSG1	48064799	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-2.122000	0.01321	-0.859000	0.04105	0.430000	0.28490	CGG	PSG1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000231924		0.507	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	75	0.00	0	G			43372959	43372959	-1	no_errors	ENST00000312439	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.026	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220364510	220364510	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr1:220364510G>C	ENST00000358951.2	-	14	1503	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	463					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACAAGGAATTGAGCTACTCGA	0.473																																						dbGAP											0													123.0	121.0	122.0					1																	220364510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1387C>G	1.37:g.220364510G>C	ENSP00000351832:p.Gln463Glu		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.Q463E	ENST00000358951.2	37	c.1387	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030465	0.93575	.	.	ENSG00000118873	ENST00000358951	D	0.89875	-2.58	5.65	5.65	0.86999	.	0.056936	0.64402	D	0.000001	D	0.89448	0.6718	L	0.47716	1.5	0.58432	D	0.999997	P	0.51147	0.942	P	0.48400	0.576	D	0.88947	0.3384	10	0.45353	T	0.12	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	463	Q9H2M9	RBGPR_HUMAN	E	463	ENSP00000351832:Q463E	ENSP00000351832:Q463E	Q	-	1	0	RAB3GAP2	218431133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	CAA	RAB3GAP2	-	superfamily_WD40_repeat_dom	ENSG00000118873		0.473	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	38	0.00	0	G	NM_012414		220364510	220364510	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	52	14.75	9	SNP	1.000	C
REV3L	5980	genome.wustl.edu	37	6	111686492	111686492	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr6:111686492T>A	ENST00000358835.3	-	16	7183	c.6729A>T	c.(6727-6729)agA>agT	p.R2243S	REV3L_ENST00000368802.3_Missense_Mutation_p.R2243S|REV3L_ENST00000435970.1_Missense_Mutation_p.R2165S|REV3L_ENST00000368805.1_Missense_Mutation_p.R2243S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2243					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACAGTACTCTTCTAAGAGTGT	0.289								DNA polymerases (catalytic subunits)																														dbGAP											0													135.0	125.0	129.0					6																	111686492		2197	4297	6494	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6729A>T	6.37:g.111686492T>A	ENSP00000351697:p.Arg2243Ser		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R2243S	ENST00000358835.3	37	c.6729	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673104	0.67928	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.45	4.3	0.51218	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	L	0.44542	1.39	0.33304	D	0.565253	P	0.40970	0.734	B	0.40864	0.342	T	0.41662	-0.9496	10	0.23891	T	0.37	.	9.7706	0.40587	0.0:0.0836:0.0:0.9164	.	2243	O60673	DPOLZ_HUMAN	S	2243;2243;2243;2165;316	ENSP00000357792:R2243S;ENSP00000357795:R2243S;ENSP00000351697:R2243S;ENSP00000402003:R2165S	ENSP00000351697:R2243S	R	-	3	2	REV3L	111793185	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.975000	0.40569	1.008000	0.39264	0.533000	0.62120	AGA	REV3L	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom	ENSG00000009413		0.289	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	93	0.00	0	T	NM_002912		111686492	111686492	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	68	21.84	19	SNP	1.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228882171	228882171	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr2:228882171C>T	ENST00000392056.3	-	7	3445	c.3399G>A	c.(3397-3399)atG>atA	p.M1133I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M1133I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1133						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGTTCACCATGAACCTGG	0.527																																						dbGAP											0													52.0	43.0	46.0					2																	228882171		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3399G>A	2.37:g.228882171C>T	ENSP00000375909:p.Met1133Ile		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.M1133I	ENST00000392056.3	37	c.3399	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803214	0.70682	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.28666	1.6;1.6	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.991;0.986;0.996	T	0.11717	-1.0576	10	0.29301	T	0.29	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	164;1133;1133	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1133	ENSP00000375909:M1133I;ENSP00000339886:M1133I	ENSP00000339886:M1133I	M	-	3	0	SPHKAP	228590415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.152000	0.77419	2.785000	0.95823	0.655000	0.94253	ATG	SPHKAP	-	NULL	ENSG00000153820		0.527	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	12	0.00	0	C	NM_030623		228882171	228882171	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	1.000	T
SRXN1	140809	genome.wustl.edu	37	20	629213	629213	+	3'UTR	SNP	T	T	C	rs3746799	byFrequency	TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr20:629213T>C	ENST00000381962.3	-	0	743				RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1						response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						gccttgtagctggtgagaggg	0.577													T|||	2819	0.562899	0.5817	0.4755	5008	,	,		19257	0.498		0.6551	False		,,,				2504	0.5716					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.*145A>G	20.37:g.629213T>C			B2R543|Q8NDM3|Q96AK6	RNA	SNP	-	NULL	ENST00000381962.3	37	NULL	CCDS13005.1	20																																																																																			SRXN1	-	-	ENSG00000172070		0.577	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRXN1	HGNC	protein_coding	OTTHUMT00000077479.2	8	0.00	0	T	NM_080725		629213	629213	-1	no_errors	ENST00000488788	ensembl	human	known	69_37n	rna	4	55.56	5	SNP	0.000	C
SZT2	23334	genome.wustl.edu	37	1	43908673	43908673	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr1:43908673G>A	ENST00000562955.1	+	58	8164	c.8164G>A	c.(8164-8166)Gta>Ata	p.V2722I	SZT2_ENST00000372442.1_Missense_Mutation_p.V1880I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2779					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCCAGCTCCGTACTTGGTCC	0.607																																						dbGAP											0													56.0	59.0	58.0					1																	43908673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8164G>A	1.37:g.43908673G>A	ENSP00000457168:p.Val2722Ile		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.V2722I	ENST00000562955.1	37	c.8164	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	g	8.234	0.805225	0.16467	.	.	ENSG00000198198	ENST00000372442	.	.	.	4.94	-0.583	0.11706	.	0.856720	0.10581	N	0.657914	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24870	-1.0148	9	0.21014	T	0.42	.	0.8828	0.01238	0.3321:0.1282:0.3216:0.218	.	2722	Q5T011-5	.	I	1880	.	ENSP00000361519:V1880I	V	+	1	0	SZT2	43681260	0.055000	0.20627	0.804000	0.32291	0.912000	0.54170	-0.093000	0.11111	0.077000	0.16863	-0.405000	0.06341	GTA	SZT2	-	NULL	ENSG00000198198		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	22	0.00	0	G	NM_015284		43908673	43908673	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	0.486	A
TRIP4	9325	genome.wustl.edu	37	15	64689807	64689807	+	Silent	SNP	A	A	T			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr15:64689807A>T	ENST00000261884.3	+	4	468	c.408A>T	c.(406-408)gcA>gcT	p.A136A	RN7SL595P_ENST00000582065.1_RNA|TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	136					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TACGATAGGCACAAGAGAACA	0.393																																						dbGAP											0													64.0	61.0	62.0					15																	64689807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.408A>T	15.37:g.64689807A>T			B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	NULL	p.T92S	ENST00000261884.3	37	c.274	CCDS10194.1	15																																																																																			TRIP4	-	NULL	ENSG00000103671		0.393	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2	46	0.00	0	A	NM_016213		64689807	64689807	+1	no_errors	ENST00000560920	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179499546	179499546	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr2:179499546G>A	ENST00000591111.1	-	179	37356	c.37132C>T	c.(37132-37134)Cgc>Tgc	p.R12378C	TTN_ENST00000589042.1_Missense_Mutation_p.R14019C|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11451C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4954C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5079C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5146C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12378					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)			GTTAAGAAGCGTTTTCCACCT	0.373																																						dbGAP											0													113.0	108.0	109.0					2																	179499546		1828	4089	5917	-	-	-	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.37132C>T	2.37:g.179499546G>A	ENSP00000465570:p.Arg12378Cys		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.R11451C	ENST00000591111.1	37	c.34351		2	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905339	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63628	0.2527	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.62435	-0.6855	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	4954;5079;5146;12378	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	11451;4954;5146;5079;4954	ENSP00000343764:R11451C;ENSP00000434586:R4954C;ENSP00000340554:R5146C;ENSP00000352154:R5079C	ENSP00000340554:R5146C	R	-	1	0	TTN	179207791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.399000	0.79935	2.941000	0.99782	0.655000	0.94253	CGC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	68	0.00	0	G	NM_133378		179499546	179499546	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	1.000	A
WWC1	23286	genome.wustl.edu	37	5	167857146	167857146	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr5:167857146G>A	ENST00000265293.4	+	14	2507	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	WWC1_ENST00000521089.1_Missense_Mutation_p.D669N	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	669	C2.				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)		TTTCAGGTATGATGAGAAGAA	0.413																																						dbGAP											0													72.0	65.0	68.0					5																	167857146		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.2005G>A	5.37:g.167857146G>A	ENSP00000265293:p.Asp669Asn		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.D669N	ENST00000265293.4	37	c.2005	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497864	0.85069	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.35421	1.31;1.31	5.42	5.42	0.78866	C2 calcium/lipid-binding domain, CaLB (1);	0.110514	0.64402	D	0.000010	T	0.53786	0.1818	L	0.51853	1.615	0.58432	D	0.999999	P;D;P;P	0.60575	0.929;0.988;0.522;0.498	P;P;B;B	0.62649	0.674;0.905;0.312;0.321	T	0.48031	-0.9070	10	0.41790	T	0.15	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	669;575;575;669	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	N	669	ENSP00000265293:D669N;ENSP00000427772:D669N	ENSP00000265293:D669N	D	+	1	0	WWC1	167789724	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	6.413000	0.73308	2.542000	0.85734	0.655000	0.94253	GAT	WWC1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000113645		0.413	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	10	0.00	0	G	NM_015238		167857146	167857146	+1	no_errors	ENST00000265293	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100349667	100349667	+	RNA	SNP	C	C	A			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr7:100349667C>A	ENST00000348028.3	+	0	2104				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_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)			CTCAGAAAAACCCACCATTTC	0.527																																						dbGAP											0													230.0	255.0	247.0					7																	100349667		1871	4113	5984	-	-	-			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.100349667C>A			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.P647T	ENST00000348028.3	37	c.1939		7	.	.	.	.	.	.	.	.	.	.	c	6.943	0.543799	0.13312	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.70986	-0.53;0.03;-0.53	2.86	-3.37	0.04898	.	.	.	.	.	T	0.48714	0.1515	L	0.31526	0.94	0.09310	N	0.999999	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.004	T	0.26849	-1.0091	9	0.33940	T	0.23	.	0.9532	0.01380	0.2971:0.3601:0.1379:0.2049	.	647;647	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	647	ENSP00000445943:P647T;ENSP00000445091:P647T;ENSP00000444427:P647T	ENSP00000423579:P647T	P	+	1	0	ZAN	100187603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.000000	0.00653	-0.854000	0.04131	-0.324000	0.08512	CCC	ZAN	-	NULL	ENSG00000146839		0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	96	0.00	0	C	NM_003386		100349667	100349667	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	128	23.35	39	SNP	0.000	A
ZNF143	7702	genome.wustl.edu	37	11	9516200	9516200	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr11:9516200T>C	ENST00000396602.2	+	8	772	c.653T>C	c.(652-654)tTa>tCa	p.L218S	ZNF143_ENST00000396604.1_Missense_Mutation_p.L217S|ZNF143_ENST00000396597.3_Missense_Mutation_p.L187S|ZNF143_ENST00000299606.2_Missense_Mutation_p.L190S|ZNF143_ENST00000530463.1_Missense_Mutation_p.L217S	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	218					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TAGATTGTTTTACAAGGACAT	0.388																																						dbGAP											0													72.0	68.0	69.0					11																	9516200		2201	4294	6495	-	-	-	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.653T>C	11.37:g.9516200T>C	ENSP00000379847:p.Leu218Ser		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L218S	ENST00000396602.2	37	c.653	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621427	0.87460	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.83;2.87	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000060	T	0.12774	0.0310	L	0.41710	1.295	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.002;0.006;0.0	T	0.02320	-1.1177	10	0.66056	D	0.02	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	187;217;218	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	S	217;218;217;187;190	ENSP00000379849:L217S;ENSP00000379847:L218S;ENSP00000432154:L217S;ENSP00000379843:L187S;ENSP00000299606:L190S	ENSP00000299606:L190S	L	+	2	0	ZNF143	9472776	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.701000	0.84566	2.324000	0.78689	0.533000	0.62120	TTA	ZNF143	-	NULL	ENSG00000166478		0.388	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	38	0.00	0	T	NM_003442		9516200	9516200	+1	no_errors	ENST00000396602	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	C
ZNF347	84671	genome.wustl.edu	37	19	53644868	53644868	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr19:53644868C>G	ENST00000334197.7	-	5	1281	c.1213G>C	c.(1213-1215)Gaa>Caa	p.E405Q	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.E406Q|ZNF347_ENST00000601469.2_Missense_Mutation_p.E406Q	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTGCCACATTCATTACATTTG	0.423																																					Melanoma(64;205 1597 17324 45721)	dbGAP											0													105.0	107.0	106.0					19																	53644868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1213G>C	19.37:g.53644868C>G	ENSP00000334146:p.Glu405Gln		B3KU77|B9EG59|G5E9N4|Q8TCN1	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.E406Q	ENST00000334197.7	37	c.1216	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897696	0.33535	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07444	3.19;3.19	2.85	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	N	0.20685	0.6	0.09310	N	1	D;B	0.69078	0.997;0.036	D;B	0.67231	0.95;0.086	T	0.24693	-1.0153	9	0.54805	T	0.06	.	11.006	0.47635	0.0:0.8086:0.1914:0.0	.	406;405	G5E9N4;Q96SE7	.;ZN347_HUMAN	Q	405;406	ENSP00000334146:E405Q;ENSP00000405218:E406Q	ENSP00000334146:E405Q	E	-	1	0	ZNF347	58336680	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-0.007000	0.12810	1.618000	0.50286	0.655000	0.94253	GAA	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	47	0.00	0	C	NM_032584		53644868	53644868	-1	no_errors	ENST00000452676	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.008	G
ZNF551	90233	genome.wustl.edu	37	19	58198258	58198258	+	Silent	SNP	A	A	G			TCGA-AC-A2FG-01A-11D-A17D-09	TCGA-AC-A2FG-11A-22D-A17D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ee5c53b4-dead-46b9-8860-3fd146104b92	61aec1b1-f2db-45a7-87a5-bec477886f85	g.chr19:58198258A>G	ENST00000282296.5	+	3	800	c.615A>G	c.(613-615)ccA>ccG	p.P205P	ZNF551_ENST00000356715.4_Silent_p.P189P|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	205					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAGGAGCCACACAGTAGCA	0.488																																						dbGAP											0													60.0	63.0	62.0					19																	58198258		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.615A>G	19.37:g.58198258A>G			B4DU22|P17034|Q8N246|Q9BRY1	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.P205	ENST00000282296.5	37	c.615	CCDS12959.2	19																																																																																			ZNF551	-	pfscan_Znf_C2H2	ENSG00000204519		0.488	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	36	0.00	0	A	NM_138347		58198258	58198258	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	0.020	G
