#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
ACTA1	58	genome.wustl.edu	37	1	229567889	229567890	+	Frame_Shift_Del	DEL	GT	GT	-	rs201823652		TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:229567889_229567890delGT	ENST00000366684.3	-	5	761_762	c.659_660delAC	c.(658-660)tacfs	p.Y220fs	ACTA1_ENST00000366683.2_Frame_Shift_Del_p.Y132fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	220					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CCAGGGCCACGTAGCACAGCTT	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.659_660delAC	1.37:g.229567889_229567890delGT	ENSP00000355645:p.Tyr220fs		P02568|P99020|Q5T8M9	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.Y220fs	ENST00000366684.3	37	c.660_659	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like	ENSG00000143632		0.663	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	52	0.00	0	GT	NM_001100		229567889	229567890	-1	no_errors	ENST00000366684	ensembl	human	known	69_37n	frame_shift_del	29	67.02	63	DEL	0.998:1.000	-
ACTA1	58	genome.wustl.edu	37	1	229567893	229567894	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:229567893_229567894delCA	ENST00000366684.3	-	5	757_758	c.655_656delTG	c.(655-657)tgcfs	p.C219fs	ACTA1_ENST00000366683.2_Frame_Shift_Del_p.C131fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	219					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.C219Y(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGCCACGTAGCACAGCTTCTCC	0.668																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)																																								-	-	-	SO:0001589	frameshift_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.655_656delTG	1.37:g.229567895_229567896delCA	ENSP00000355645:p.Cys219fs		P02568|P99020|Q5T8M9	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.C219fs	ENST00000366684.3	37	c.656_655	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like	ENSG00000143632		0.668	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	53	0.00	0	CA	NM_001100		229567893	229567894	-1	no_errors	ENST00000366684	ensembl	human	known	69_37n	frame_shift_del	29	68.13	62	DEL	1.000:1.000	-
ACTA1	58	genome.wustl.edu	37	1	229567901	229567901	+	Frame_Shift_Del	DEL	C	C	-	rs538086483		TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:229567901delC	ENST00000366684.3	-	5	750	c.648delG	c.(646-648)gagfs	p.E216fs	ACTA1_ENST00000366683.2_Frame_Shift_Del_p.E128fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	216					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				AGCACAGCTTCTCCTTGATGT	0.682																																						dbGAP											0													40.0	33.0	35.0					1																	229567901		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.648delG	1.37:g.229567901delC	ENSP00000355645:p.Glu216fs		P02568|P99020|Q5T8M9	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.K217fs	ENST00000366684.3	37	c.648	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like	ENSG00000143632		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	50	0.00	0	C	NM_001100		229567901	229567901	-1	no_errors	ENST00000366684	ensembl	human	known	69_37n	frame_shift_del	28	64.04	57	DEL	1.000	-
ALMS1	7840	genome.wustl.edu	37	2	73675332	73675332	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr2:73675332C>T	ENST00000264448.6	+	8	1786	c.1675C>T	c.(1675-1677)Cca>Tca	p.P559S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P559S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P517S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	559	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TATTCCTGAACCAGCTGACCA	0.463																																						dbGAP											0													89.0	87.0	87.0					2																	73675332		1914	4128	6042	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1675C>T	2.37:g.73675332C>T	ENSP00000264448:p.Pro559Ser		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.P559S	ENST00000264448.6	37	c.1675	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557210	0.27827	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15256	3.33;3.33;2.44	4.52	0.647	0.17796	.	1.270920	0.05497	N	0.557709	T	0.13628	0.0330	L	0.38175	1.15	0.09310	N	1	P;P	0.48694	0.914;0.914	P;P	0.46543	0.52;0.52	T	0.13469	-1.0508	10	0.06757	T	0.87	.	3.0356	0.06121	0.1925:0.4928:0.0:0.3147	.	517;559	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	S	517;559;559	ENSP00000386627:P517S;ENSP00000264448:P559S;ENSP00000366944:P559S	ENSP00000264448:P559S	P	+	1	0	ALMS1	73528840	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.151000	0.16283	0.106000	0.17784	-0.136000	0.14681	CCA	ALMS1	-	NULL	ENSG00000116127		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	201	0.00	0	C	NM_015120		73675332	73675332	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	131	34.50	69	SNP	0.000	T
ANO5	203859	genome.wustl.edu	37	11	22294371	22294371	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr11:22294371C>A	ENST00000324559.8	+	19	2388	c.2071C>A	c.(2071-2073)Cct>Act	p.P691T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	691					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCTCTTTTCCTTTGGCTCC	0.388																																						dbGAP											0													159.0	139.0	146.0					11																	22294371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2071C>A	11.37:g.22294371C>A	ENSP00000315371:p.Pro691Thr			Missense_Mutation	SNP	pfam_Anoctamin	p.P691T	ENST00000324559.8	37	c.2071	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	c	16.86	3.240088	0.58995	.	.	ENSG00000171714	ENST00000324559	T	0.79141	-1.24	5.43	4.5	0.54988	.	0.045675	0.85682	N	0.000000	D	0.90448	0.7009	H	0.97240	3.965	0.80722	D	1	B	0.22276	0.067	B	0.43990	0.438	D	0.90697	0.4617	10	0.72032	D	0.01	.	15.6732	0.77295	0.1383:0.8616:0.0:0.0	.	691	Q75V66	ANO5_HUMAN	T	691	ENSP00000315371:P691T	ENSP00000315371:P691T	P	+	1	0	ANO5	22250947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.003000	0.70701	1.385000	0.46445	0.556000	0.70494	CCT	ANO5	-	pfam_Anoctamin	ENSG00000171714		0.388	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	496	0.00	0	C	NM_213599		22294371	22294371	+1	no_errors	ENST00000324559	ensembl	human	known	69_37n	missense	284	19.26	68	SNP	1.000	A
ANP32E	81611	genome.wustl.edu	37	1	150202960	150202960	+	Silent	SNP	G	G	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:150202960G>C	ENST00000314136.8	-	3	642	c.273C>G	c.(271-273)acC>acG	p.T91T	ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000369119.3_Silent_p.T43T|ANP32E_ENST00000369114.5_Silent_p.T91T|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000533654.1_Silent_p.T91T	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	91					histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATTGAGGTAGGTAAGATTTG	0.358																																						dbGAP											0													118.0	112.0	114.0					1																	150202960		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.273C>G	1.37:g.150202960G>C			B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Silent	SNP	pfam_Leu-rich_rpt	p.T91	ENST00000314136.8	37	c.273	CCDS946.1	1																																																																																			ANP32E	-	pfam_Leu-rich_rpt	ENSG00000143401		0.358	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32E	HGNC	protein_coding	OTTHUMT00000035056.1	128	0.00	0	G	NM_030920		150202960	150202960	-1	no_errors	ENST00000314136	ensembl	human	known	69_37n	silent	109	38.76	69	SNP	0.996	C
ARHGAP11B	89839	genome.wustl.edu	37	15	31042620	31042621	+	3'UTR	INS	-	-	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr15:31042620_31042621insA	ENST00000602616.2	+	0	362_363					NR_038253.1|NR_038254.1|NR_038255.1		Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGGTTTCTAGTGTGCTTCCAAA	0.495																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000602616.2:c.*360->A	15.37:g.31042620_31042621insA				RNA	INS	-	NULL	ENST00000602616.2	37	NULL		15																																																																																			ARHGAP11B	-	-	ENSG00000187951		0.495	ARHGAP11B-007	KNOWN	basic	processed_transcript	ARHGAP11B	HGNC	protein_coding	OTTHUMT00000430733.2	74	0.00	0	-	NM_001039841		31042620	31042621	+1	no_errors	ENST00000562954	ensembl	human	known	69_37n	rna	40	13.04	6	INS	1.000:1.000	A
ATP1A2	477	genome.wustl.edu	37	1	160098503	160098503	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:160098503A>G	ENST00000361216.3	+	9	1168	c.1079A>G	c.(1078-1080)gAg>gGg	p.E360G	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E360G	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	360					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AAGAACCTGGAGGCGGTGGAG	0.582																																						dbGAP											0													111.0	98.0	102.0					1																	160098503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1079A>G	1.37:g.160098503A>G	ENSP00000354490:p.Glu360Gly		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E360G	ENST00000361216.3	37	c.1079	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.3|28.3	4.907933|4.907933	0.92107|0.92107	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.88975|.	-2.45;-2.45|.	4.77|4.77	4.77|4.77	0.60923|0.60923	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73305|0.73305	0.3570|0.3570	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	T|T	0.78237|0.78237	-0.2282|-0.2282	10|5	0.87932|.	D|.	0|.	.|.	13.5914|13.5914	0.61961|0.61961	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	205;360;260;360|.	B4DHD7;B1AKY9;F5GXJ7;P50993|.	.;.;.;AT1A2_HUMAN|.	G|G	205;360;360;63|71	ENSP00000354490:E360G;ENSP00000376066:E360G|.	ENSP00000354490:E360G|.	E|R	+|+	2|1	0|2	ATP1A2|ATP1A2	158365127|158365127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.264000|9.264000	0.95635|0.95635	1.912000|1.912000	0.55364|0.55364	0.459000|0.459000	0.35465|0.35465	GAG|AGG	ATP1A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000018625		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	242	0.00	0	A	NM_000702		160098503	160098503	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	missense	229	15.19	41	SNP	1.000	G
BZW1	9689	genome.wustl.edu	37	2	201683608	201683608	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr2:201683608C>G	ENST00000409600.1	+	9	1405	c.950C>G	c.(949-951)gCc>gGc	p.A317G	BZW1_ENST00000409226.1_Missense_Mutation_p.A321G|BZW1_ENST00000452790.2_Missense_Mutation_p.A349G	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	317	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCAGAGCAAGCCATCAAGCAC	0.403																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.950C>G	2.37:g.201683608C>G	ENSP00000386474:p.Ala317Gly		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.A317G	ENST00000409600.1	37	c.950	CCDS56156.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.415102|5.415102	0.96092|0.96092	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790|ENST00000359893	T;T;T|.	0.81330|.	-1.48;-1.48;-1.48|.	5.56|5.56	5.56|5.56	0.83823|0.83823	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);|.	.|.	.|.	.|.	.|.	D|D	0.84929|0.84929	0.5581|0.5581	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;P|.	0.53745|.	0.962;0.95|.	P;P|.	0.54815|.	0.686;0.761|.	D|D	0.86285|0.86285	0.1670|0.1670	8|5	.|.	.|.	.|.	-10.0142|-10.0142	19.9052|19.9052	0.97004|0.97004	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	349;317|.	B4DLZ8;Q7L1Q6|.	.;BZW1_HUMAN|.	G|A	317;321;349|67	ENSP00000386474:A317G;ENSP00000386837:A321G;ENSP00000394316:A349G|.	.|.	A|P	+|+	2|1	0|0	BZW1|BZW1	201391853|201391853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GCC|CCA	BZW1	-	superfamily_ARM-type_fold	ENSG00000082153		0.403	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	83	0.00	0	C	NM_014670		201683608	201683608	+1	no_errors	ENST00000409600	ensembl	human	known	69_37n	missense	55	19.12	13	SNP	1.000	G
C9orf66	157983	genome.wustl.edu	37	9	214629	214630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr9:214629_214630insC	ENST00000382387.2	-	1	1263_1264	c.767_768insG	c.(766-768)cgafs	p.R256fs	DOCK8_ENST00000453981.1_5'Flank|DOCK8_ENST00000432829.2_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	256	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCGCAGTGGTCGCCTGTCGTC	0.733																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.768dupG	9.37:g.214630_214630dupC	ENSP00000371824:p.Arg256fs		Q96NB0	Frame_Shift_Ins	INS	NULL	p.P257fs	ENST00000382387.2	37	c.768_767	CCDS6439.1	9																																																																																			C9orf66	-	NULL	ENSG00000183784		0.733	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	HGNC	protein_coding	OTTHUMT00000055436.1	29	0.00	0	-	NM_152569		214629	214630	-1	no_errors	ENST00000382387	ensembl	human	known	69_37n	frame_shift_ins	29	30.95	13	INS	0.123:0.141	C
CLIP2	7461	genome.wustl.edu	37	7	73803543	73803544	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr7:73803543_73803544insG	ENST00000395060.1	+	12	2674_2675	c.2674_2675insG	c.(2674-2676)tcgfs	p.S892fs	CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.S892fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.S857fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	892						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCATGACGCCTCGGGCCAGCTA	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	Exception_encountered	7.37:g.73803543_73803544insG	ENSP00000378500:p.Ser892fs		O14527|O43611	Frame_Shift_Ins	INS	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.S892fs	ENST00000395060.1	37	c.2674_2675	CCDS5569.1	7																																																																																			CLIP2	-	NULL	ENSG00000106665		0.673	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	53	0.00	0	-	NM_003388		73803543	73803544	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	frame_shift_ins	77	36.89	45	INS	1.000:0.998	G
CLIP2	7461	genome.wustl.edu	37	7	73803546	73803547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr7:73803546_73803547insT	ENST00000395060.1	+	12	2677_2678	c.2677_2678insT	c.(2677-2679)ggcfs	p.G893fs	CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.G893fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.G858fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	893						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGACGCCTCGGGCCAGCTAGTC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	Exception_encountered	7.37:g.73803546_73803547insT	ENSP00000378500:p.Gly893fs		O14527|O43611	Frame_Shift_Ins	INS	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.G893fs	ENST00000395060.1	37	c.2677_2678	CCDS5569.1	7																																																																																			CLIP2	-	NULL	ENSG00000106665		0.673	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	49	0.00	0	-	NM_003388		73803546	73803547	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	frame_shift_ins	57	44.12	45	INS	1.000:1.000	T
CNNM2	54805	genome.wustl.edu	37	10	104679069	104679070	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr10:104679069_104679070insT	ENST00000369878.4	+	1	1020_1021	c.832_833insT	c.(832-834)gggfs	p.G278fs	CNNM2_ENST00000369875.3_Frame_Shift_Ins_p.G278fs|CNNM2_ENST00000433628.2_Frame_Shift_Ins_p.G278fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	278	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTCAACCTGGGGCTCATGGCC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	Exception_encountered	10.37:g.104679069_104679070insT	ENSP00000358894:p.Gly278fs		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Ins	INS	pfam_DUF21,superfamily_cNMP-bd-like	p.G278fs	ENST00000369878.4	37	c.832_833	CCDS44474.1	10																																																																																			CNNM2	-	pfam_DUF21	ENSG00000148842		0.614	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	27	0.00	0	-	NM_017649		104679069	104679070	+1	no_errors	ENST00000457502	ensembl	human	known	69_37n	frame_shift_ins	19	48.65	18	INS	1.000:1.000	T
CRY2	1408	genome.wustl.edu	37	11	45880386	45880386	+	Silent	SNP	A	A	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr11:45880386A>T	ENST00000443527.2	+	3	514	c.492A>T	c.(490-492)gtA>gtT	p.V164V	CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Silent_p.V82V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	143					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GTGTGGAAGTAGTGACGGAGA	0.517																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	dbGAP											0													132.0	116.0	121.0					11																	45880386		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.492A>T	11.37:g.45880386A>T			B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.V164	ENST00000443527.2	37	c.492	CCDS7915.2	11																																																																																			CRY2	-	pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N	ENSG00000121671		0.517	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	174	0.00	0	A	NM_021117		45880386	45880386	+1	no_errors	ENST00000443527	ensembl	human	known	69_37n	silent	96	21.31	26	SNP	1.000	T
PRR32	100130613	genome.wustl.edu	37	X	125955269	125955269	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chrX:125955269G>T	ENST00000371125.3	+	2	728	c.648G>T	c.(646-648)agG>agT	p.R216S		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		216	Pro-rich.																TCCCACTCAGGGGCCCATGCC	0.507																																						dbGAP											0													92.0	74.0	79.0					X																	125955269		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000371125.3:c.648G>T	X.37:g.125955269G>T	ENSP00000360166:p.Arg216Ser			Missense_Mutation	SNP	NULL	p.R216S	ENST00000371125.3	37	c.648	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	G	4.194	0.034624	0.08101	.	.	ENSG00000183631	ENST00000371125	T	0.28255	1.62	4.12	-3.41	0.04839	.	0.902482	0.08989	N	0.864705	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.19391	0.025	T	0.26155	-1.0111	10	0.27785	T	0.31	-1.0E-4	1.1861	0.01855	0.2882:0.1724:0.3673:0.1721	.	216	B1ATL7	CX064_HUMAN	S	216	ENSP00000360166:R216S	ENSP00000360166:R216S	R	+	3	2	CXorf64	125782950	0.009000	0.17119	0.000000	0.03702	0.005000	0.04900	0.187000	0.16998	-0.759000	0.04684	0.600000	0.82982	AGG	CXorf64	-	NULL	ENSG00000183631		0.507	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1	162	0.00	0	G			125955269	125955269	+1	no_errors	ENST00000371125	ensembl	human	known	69_37n	missense	119	25.16	40	SNP	0.000	T
CYP7B1	9420	genome.wustl.edu	37	8	65528565	65528565	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr8:65528565G>T	ENST00000310193.3	-	3	706	c.533C>A	c.(532-534)gCa>gAa	p.A178E	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	178					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATACAGTTCTGCCGTGTCCCA	0.353																																						dbGAP											0													58.0	58.0	58.0					8																	65528565		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.533C>A	8.37:g.65528565G>T	ENSP00000310721:p.Ala178Glu		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.A178E	ENST00000310193.3	37	c.533	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.282288	0.00020	.	.	ENSG00000172817	ENST00000310193	D	0.85484	-1.99	5.32	-3.77	0.04346	.	1.027490	0.07659	N	0.933243	T	0.63367	0.2505	N	0.03983	-0.305	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.50849	-0.8779	9	.	.	.	-28.1646	8.68	0.34203	0.0678:0.0794:0.149:0.7039	.	178	O75881	CP7B1_HUMAN	E	178	ENSP00000310721:A178E	.	A	-	2	0	CYP7B1	65691119	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.109000	0.10840	-0.283000	0.09115	-0.137000	0.14449	GCA	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000172817		0.353	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	69	0.00	0	G			65528565	65528565	-1	no_errors	ENST00000310193	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	0.000	T
DCHS2	54798	genome.wustl.edu	37	4	155160373	155160373	+	Missense_Mutation	SNP	A	A	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr4:155160373A>C	ENST00000357232.4	-	24	6075	c.6076T>G	c.(6076-6078)Tct>Gct	p.S2026A		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2026	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATTCTGTAAGAAATGTTCTCA	0.378																																						dbGAP											0													60.0	62.0	61.0					4																	155160373		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6076T>G	4.37:g.155160373A>C	ENSP00000349768:p.Ser2026Ala		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S2026A	ENST00000357232.4	37	c.6076	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365869	0.41902	.	.	ENSG00000197410	ENST00000357232	T	0.52754	0.65	5.92	3.42	0.39159	Cadherin (4);Cadherin-like (1);	0.172621	0.41194	D	0.000937	T	0.50274	0.1606	M	0.64630	1.985	0.80722	D	1	P	0.48230	0.907	P	0.48089	0.566	T	0.45833	-0.9234	10	0.46703	T	0.11	.	10.2667	0.43460	0.7361:0.0:0.0:0.2639	.	2026	Q6V1P9	PCD23_HUMAN	A	2026	ENSP00000349768:S2026A	ENSP00000349768:S2026A	S	-	1	0	DCHS2	155379823	1.000000	0.71417	0.977000	0.42913	0.268000	0.26511	2.477000	0.45180	0.455000	0.26910	-0.509000	0.04479	TCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	219	0.00	0	A	NM_001142552		155160373	155160373	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	147	20.43	38	SNP	1.000	C
DTX1	1840	genome.wustl.edu	37	12	113515623	113515624	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr12:113515623_113515624CC>GT	ENST00000257600.3	+	2	1157_1158	c.654_655CC>GT	c.(652-657)atCCtg>atGTtg	p.I218M		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	218					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ccaacgccatcctggcctcgca	0.777																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	Exception_encountered	12.37:g.113515623_113515624delinsGT	ENSP00000257600:p.Ile218Met		O60630|Q9BS04	Missense_Mutation|Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.I218M|p.L219	ENST00000257600.3	37	c.654|c.655	CCDS9164.1	12																																																																																			DTX1	-	NULL	ENSG00000135144		0.777	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	8	0.00	0	C			113515623|113515624	113515623|113515624	+1	no_errors	ENST00000257600	ensembl	human	known	69_37n	missense|silent	8|7	38.46|36.36	5|4	SNP	1.000	G|T
ERMP1	79956	genome.wustl.edu	37	9	5805716	5805716	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr9:5805716C>A	ENST00000339450.5	-	9	1707	c.1618G>T	c.(1618-1620)Gtt>Ttt	p.V540F	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.V316F|ERMP1_ENST00000543230.1_Missense_Mutation_p.V118F	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	540						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTGAGGGTAACAAGAAAACAG	0.423																																						dbGAP											0													102.0	89.0	94.0					9																	5805716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1618G>T	9.37:g.5805716C>A	ENSP00000340427:p.Val540Phe		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.V540F	ENST00000339450.5	37	c.1618	CCDS34983.1	9	.	.	.	.	.	.	.	.	.	.	C	6.237	0.411873	0.11812	.	.	ENSG00000099219	ENST00000339450;ENST00000543230;ENST00000381506	T	0.46451	0.87	5.43	-1.89	0.07689	.	0.525914	0.20995	N	0.081977	T	0.25195	0.0612	L	0.34521	1.04	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.13926	-1.0491	10	0.33141	T	0.24	-0.7552	7.2841	0.26328	0.0:0.4982:0.1277:0.3742	.	540	Q7Z2K6	ERMP1_HUMAN	F	540;118;316	ENSP00000340427:V540F	ENSP00000340427:V540F	V	-	1	0	ERMP1	5795716	0.012000	0.17670	0.000000	0.03702	0.195000	0.23768	0.274000	0.18680	-0.043000	0.13513	-0.136000	0.14681	GTT	ERMP1	-	NULL	ENSG00000099219		0.423	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1	357	0.00	0	C	NM_024896		5805716	5805716	-1	no_errors	ENST00000339450	ensembl	human	known	69_37n	missense	363	15.55	67	SNP	0.012	A
SPATA31D1	389763	genome.wustl.edu	37	9	84607639	84607639	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr9:84607639T>A	ENST00000344803.2	+	4	2301	c.2254T>A	c.(2254-2256)Ttc>Atc	p.F752I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	752					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGCATCAAGCTTCCCTAGAAG	0.448																																						dbGAP											0													46.0	43.0	44.0					9																	84607639		1819	4067	5886	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2254T>A	9.37:g.84607639T>A	ENSP00000341988:p.Phe752Ile			Missense_Mutation	SNP	NULL	p.F752I	ENST00000344803.2	37	c.2254	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	T	1.601	-0.526449	0.04141	.	.	ENSG00000214929	ENST00000344803	T	0.06218	3.33	2.57	-5.14	0.02875	.	6.021430	0.00166	N	0.000000	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37709	-0.9694	10	0.22109	T	0.4	5.2328	3.4221	0.07397	0.3189:0.2164:0.0:0.4647	.	752	Q6ZQQ2	F75D1_HUMAN	I	752	ENSP00000341988:F752I	ENSP00000341988:F752I	F	+	1	0	FAM75D1	83797459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-1.510000	0.01796	-2.910000	0.00091	TTC	FAM75D1	-	NULL	ENSG00000214929		0.448	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	221	0.00	0	T	NM_001001670		84607639	84607639	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	134	14.10	22	SNP	0.000	A
FOXP4	116113	genome.wustl.edu	37	6	41557744	41557745	+	Frame_Shift_Del	DEL	TC	TC	-	rs201048055	byFrequency	TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr6:41557744_41557745delTC	ENST00000307972.4	+	10	1205_1206	c.1193_1194delTC	c.(1192-1194)gtcfs	p.V398fs	FOXP4_ENST00000373063.3_Frame_Shift_Del_p.V385fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.V386fs|FOXP4_ENST00000373060.1_Frame_Shift_Del_p.V398fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.V396fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	398					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AAGGTGACCGTCTCTGCAGCAG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1193_1194delTC	6.37:g.41557746_41557747delTC	ENSP00000309823:p.Val398fs		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S399fs	ENST00000307972.4	37	c.1193_1194	CCDS34447.1	6																																																																																			FOXP4	-	NULL	ENSG00000137166		0.683	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1	33	0.00	0	TC	NM_138457		41557744	41557745	+1	no_errors	ENST00000307972	ensembl	human	known	69_37n	frame_shift_del	41	16.33	8	DEL	1.000:1.000	-
GPCPD1	56261	genome.wustl.edu	37	20	5556511	5556511	+	Silent	SNP	A	A	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr20:5556511A>C	ENST00000379019.4	-	9	1031	c.819T>G	c.(817-819)acT>acG	p.T273T	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	273			T -> I (in dbSNP:rs2273373).		glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGATGGGAAGAGTAAGAATTC	0.438																																						dbGAP											0													115.0	104.0	107.0					20																	5556511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.819T>G	20.37:g.5556511A>C			D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20	p.T273	ENST00000379019.4	37	c.819	CCDS13090.1	20																																																																																			GPCPD1	-	NULL	ENSG00000125772		0.438	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPCPD1	HGNC	protein_coding	OTTHUMT00000077869.1	155	0.00	0	A	NM_019593		5556511	5556511	-1	no_errors	ENST00000379019	ensembl	human	known	69_37n	silent	146	18.33	33	SNP	0.931	C
GPR153	387509	genome.wustl.edu	37	1	6314757	6314758	+	Frame_Shift_Ins	INS	-	-	A	rs138377041		TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:6314757_6314758insA	ENST00000377893.2	-	2	467_468	c.208_209insT	c.(208-210)cggfs	p.R70fs		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCGCTGCCGCCGCAGCTGCACC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.208_209insT	1.37:g.6314757_6314758insA	ENSP00000367125:p.Arg70fs		Q5TGR5|Q6AHW8|Q86SP8	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_153,prints_GPCR_153/162	p.R70fs	ENST00000377893.2	37	c.209_208	CCDS64.1	1																																																																																			GPR153	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000158292		0.609	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	59	0.00	0	-			6314757	6314758	-1	no_errors	ENST00000377893	ensembl	human	known	69_37n	frame_shift_ins	52	33.33	26	INS	1.000:1.000	A
GZMH	2999	genome.wustl.edu	37	14	25075891	25075891	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr14:25075891T>A	ENST00000216338.4	-	5	703	c.659A>T	c.(658-660)aAc>aTc	p.N220I	RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.N134I|GZMH_ENST00000557220.2_Missense_Mutation_p.N89I|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CCCTTTTTTGTTTCCATAGGA	0.517																																						dbGAP											0													123.0	118.0	119.0					14																	25075891		2203	4300	6503	-	-	-	SO:0001583	missense	0			M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.659A>T	14.37:g.25075891T>A	ENSP00000216338:p.Asn220Ile		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.N220I	ENST00000216338.4	37	c.659	CCDS9632.1	14	.	.	.	.	.	.	.	.	.	.	t	6.608	0.480520	0.12581	.	.	ENSG00000100450	ENST00000216338;ENST00000382547;ENST00000382548	D;D	0.89123	-2.41;-2.47	4.53	-2.89	0.05665	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.66954	0.2842	N	0.01410	-0.885	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.25405	0.002;0.06	T	0.57522	-0.7797	9	0.23891	T	0.37	.	5.5583	0.17129	0.0:0.2542:0.2484:0.4974	.	134;220	Q6XGZ1;P20718	.;GRAH_HUMAN	I	220;89;134	ENSP00000216338:N220I;ENSP00000371988:N134I	ENSP00000216338:N220I	N	-	2	0	GZMH	24145731	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.066000	0.01385	-1.020000	0.03354	-2.960000	0.00083	AAC	GZMH	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000100450		0.517	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMH	HGNC	protein_coding	OTTHUMT00000276538.2	234	0.00	0	T	NM_033423		25075891	25075891	-1	no_errors	ENST00000216338	ensembl	human	known	69_37n	missense	117	20.41	30	SNP	0.000	A
IFI16	3428	genome.wustl.edu	37	1	159021843	159021843	+	Silent	SNP	A	A	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:159021843A>G	ENST00000295809.7	+	10	2295	c.2040A>G	c.(2038-2040)tcA>tcG	p.S680S	IFI16_ENST00000368132.3_Silent_p.S624S|IFI16_ENST00000448393.2_Silent_p.S568S|IFI16_ENST00000359709.3_Silent_p.S624S|IFI16_ENST00000340979.6_Silent_p.S568S|IFI16_ENST00000430894.2_Silent_p.S628S|IFI16_ENST00000368131.4_Silent_p.S624S			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	680	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGCTTTGCTCACAAACTAAAG	0.398																																						dbGAP											0													62.0	66.0	65.0					1																	159021843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.2040A>G	1.37:g.159021843A>G			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.S680	ENST00000295809.7	37	c.2040		1	.	.	.	.	.	.	.	.	.	.	A	3.816	-0.038669	0.07497	.	.	ENSG00000163565	ENST00000448393	.	.	.	4.85	0.213	0.15244	.	.	.	.	.	T	0.13841	0.0335	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30001	-0.9993	4	.	.	.	.	6.608	0.22735	0.6293:0.0:0.3707:0.0	.	.	.	.	R	389	.	.	H	+	2	0	IFI16	157288467	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.180000	0.09754	0.150000	0.19136	0.496000	0.49642	CAC	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163565		0.398	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	79	0.00	0	A	NM_005531		159021843	159021843	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	silent	60	21.05	16	SNP	0.001	G
ISOC1	51015	genome.wustl.edu	37	5	128448599	128448599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr5:128448599C>T	ENST00000173527.5	+	5	818	c.802C>T	c.(802-804)Cag>Tag	p.Q268*		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	268						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TGTTCTGCTTCAGCTGGTAGC	0.438																																						dbGAP											0													112.0	108.0	109.0					5																	128448599		1887	4105	5992	-	-	-	SO:0001587	stop_gained	0			AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.802C>T	5.37:g.128448599C>T	ENSP00000173527:p.Gln268*		Q7Z770	Nonsense_Mutation	SNP	pfam_Isochorismatase-like,superfamily_Isochorismatase-like	p.Q268*	ENST00000173527.5	37	c.802	CCDS43357.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192633	0.78902	.	.	ENSG00000066583	ENST00000173527	.	.	.	4.93	4.93	0.64822	.	0.152921	0.43919	D	0.000506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.9146	18.7233	0.91704	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	.	Q	+	1	0	ISOC1	128476498	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	6.570000	0.73996	2.718000	0.92993	0.655000	0.94253	CAG	ISOC1	-	superfamily_Isochorismatase-like	ENSG00000066583		0.438	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISOC1	HGNC	protein_coding	OTTHUMT00000371826.1	213	0.00	0	C	NM_016048		128448599	128448599	+1	no_errors	ENST00000173527	ensembl	human	known	69_37n	nonsense	59	34.44	31	SNP	1.000	T
KCND1	3750	genome.wustl.edu	37	X	48825777	48825777	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chrX:48825777C>G	ENST00000218176.3	-	1	2199	c.902G>C	c.(901-903)cGc>cCc	p.R301P	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	301					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.R301H(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CTTGAAGATGCGAAACACCCG	0.557																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											91.0	69.0	77.0					X																	48825777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.902G>C	X.37:g.48825777C>G	ENSP00000218176:p.Arg301Pro		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R301P	ENST00000218176.3	37	c.902	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337298	0.81911	.	.	ENSG00000102057	ENST00000218176	D	0.99637	-6.29	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97024	0.9745	10	0.87932	D	0	.	17.066	0.86559	0.0:1.0:0.0:0.0	.	301	Q9NSA2	KCND1_HUMAN	P	301	ENSP00000218176:R301P	ENSP00000218176:R301P	R	-	2	0	KCND1	48710721	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.090000	0.71397	2.294000	0.77228	0.594000	0.82650	CGC	KCND1	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000102057		0.557	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	130	0.00	0	C	NM_004979		48825777	48825777	-1	no_errors	ENST00000218176	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	1.000	G
LARP7	51574	genome.wustl.edu	37	4	113567531	113567531	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr4:113567531C>A	ENST00000344442.5	+	3	505	c.227C>A	c.(226-228)tCt>tAt	p.S76Y	MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.S76Y|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.S83Y|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302D_ENST00000362275.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	76	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTACTTGTGTCTTTTAACAAA	0.318																																						dbGAP											0													66.0	61.0	62.0					4																	113567531		1828	4076	5904	-	-	-	SO:0001583	missense	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.227C>A	4.37:g.113567531C>A	ENSP00000344950:p.Ser76Tyr		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.S76Y	ENST00000344442.5	37	c.227	CCDS3701.2	4	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114951	0.77210	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000508577;ENST00000505034;ENST00000324052;ENST00000507443	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.33	5.33	0.75918	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.261213	0.38111	N	0.001812	T	0.77164	0.4090	M	0.92691	3.335	0.58432	D	0.99999	D;D	0.89917	0.995;1.0	D;D	0.81914	0.979;0.995	T	0.83346	-0.0005	10	0.87932	D	0	-19.8323	19.005	0.92846	0.0:1.0:0.0:0.0	.	76;76	D6RFF0;Q4G0J3	.;LARP7_HUMAN	Y	76;83;76;76;76;76	ENSP00000344950:S76Y;ENSP00000422626:S83Y;ENSP00000426646:S76Y;ENSP00000421541:S76Y;ENSP00000314311:S76Y;ENSP00000421963:S76Y	ENSP00000314311:S76Y	S	+	2	0	LARP7	113786980	0.994000	0.37717	0.994000	0.49952	0.950000	0.60333	3.539000	0.53604	2.473000	0.83533	0.591000	0.81541	TCT	LARP7	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	ENSG00000174720		0.318	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	116	0.00	0	C	NM_016648		113567531	113567531	+1	no_errors	ENST00000324052	ensembl	human	known	69_37n	missense	70	25.53	24	SNP	0.983	A
LRRC16B	90668	genome.wustl.edu	37	14	24534915	24534915	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr14:24534915G>A	ENST00000342740.5	+	34	3635	c.3481G>A	c.(3481-3483)Ggg>Agg	p.G1161R	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1161						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGCCCTTCCCGGGTTGGAAAG	0.617																																						dbGAP											0													121.0	108.0	112.0					14																	24534915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3481G>A	14.37:g.24534915G>A	ENSP00000340467:p.Gly1161Arg		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G1161R	ENST00000342740.5	37	c.3481	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935402	0.73442	.	.	ENSG00000186648	ENST00000342740	T	0.18174	2.23	5.4	5.4	0.78164	.	0.141061	0.33161	N	0.005214	T	0.27241	0.0668	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02852	-1.1102	10	0.46703	T	0.11	-15.7681	14.6697	0.68934	0.0:0.0:1.0:0.0	.	1161	Q8ND23	LR16B_HUMAN	R	1161	ENSP00000340467:G1161R	ENSP00000340467:G1161R	G	+	1	0	LRRC16B	23604755	0.987000	0.35691	0.988000	0.46212	0.820000	0.46376	2.929000	0.48916	2.522000	0.85027	0.655000	0.94253	GGG	LRRC16B	-	NULL	ENSG00000186648		0.617	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	155	0.00	0	G	NM_138360		24534915	24534915	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	0.977	A
LRRC4C	57689	genome.wustl.edu	37	11	40136678	40136678	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr11:40136678G>C	ENST00000278198.2	-	2	3128	c.1165C>G	c.(1165-1167)Cca>Gca	p.P389A	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P389A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P389A|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P389A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	389	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTCCATTTGGAGTAATCCAA	0.488																																						dbGAP											0													151.0	134.0	140.0					11																	40136678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1165C>G	11.37:g.40136678G>C	ENSP00000278198:p.Pro389Ala		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P389A	ENST00000278198.2	37	c.1165	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116017	0.56505	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76982	-0.2757	10	0.72032	D	0.01	.	18.9283	0.92553	0.0:0.0:1.0:0.0	.	389	Q9HCJ2	LRC4C_HUMAN	A	389	ENSP00000278198:P389A;ENSP00000436976:P389A;ENSP00000437132:P389A;ENSP00000434761:P389A	ENSP00000278198:P389A	P	-	1	0	LRRC4C	40093254	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.786000	0.99046	2.722000	0.93159	0.650000	0.86243	CCA	LRRC4C	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000148948		0.488	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	108	0.00	0	G	NM_020929		40136678	40136678	-1	no_errors	ENST00000527150	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	1.000	C
MAP3K12	7786	genome.wustl.edu	37	12	53879958	53879958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr12:53879958delG	ENST00000267079.2	-	5	829	c.604delC	c.(604-606)ctgfs	p.L202fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.L235fs|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.L235fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCAGCCCGCAGTACCTCATAC	0.597																																						dbGAP											0													77.0	74.0	75.0					12																	53879958		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.604delC	12.37:g.53879958delG	ENSP00000267079:p.Leu202fs		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L202fs	ENST00000267079.2	37	c.604	CCDS8860.1	12																																																																																			MAP3K12	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000139625		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	83	0.00	0	G	NM_006301		53879958	53879958	-1	no_errors	ENST00000267079	ensembl	human	known	69_37n	frame_shift_del	60	49.61	63	DEL	1.000	-
MLC1	23209	genome.wustl.edu	37	22	50523318	50523319	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr22:50523318_50523319insA	ENST00000311597.5	-	2	619_620	c.13_14insT	c.(13-15)ccafs	p.P5fs	MLC1_ENST00000538737.1_Frame_Shift_Ins_p.P5fs|MLC1_ENST00000450140.2_Frame_Shift_Ins_p.P5fs|MLC1_ENST00000431262.2_Frame_Shift_Ins_p.P5fs|MLC1_ENST00000535444.1_Intron|MLC1_ENST00000395876.2_Frame_Shift_Ins_p.P5fs	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	5					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CTCTCTGAATGGCTCCTGGGTC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.13_14insT	22.37:g.50523318_50523319insA	ENSP00000310375:p.Pro5fs		B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Frame_Shift_Ins	INS	NULL	p.P5fs	ENST00000311597.5	37	c.14_13	CCDS14083.1	22																																																																																			MLC1	-	NULL	ENSG00000100427		0.594	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	HGNC	protein_coding	OTTHUMT00000316979.2	37	0.00	0	-	NM_015166		50523318	50523319	-1	no_errors	ENST00000311597	ensembl	human	known	69_37n	frame_shift_ins	72	58.38	101	INS	0.011:0.241	A
MUC21	394263	genome.wustl.edu	37	6	30955398	30955398	+	Silent	SNP	C	C	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr6:30955398C>A	ENST00000376296.3	+	2	1687	c.1446C>A	c.(1444-1446)ctC>ctA	p.L482L	MUC21_ENST00000486149.2_Silent_p.L28L	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	482					cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AAATCTTCCTCATCACCCTGG	0.562																																						dbGAP											0													105.0	108.0	107.0					6																	30955398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1446C>A	6.37:g.30955398C>A			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.L482	ENST00000376296.3	37	c.1446	CCDS34388.1	6																																																																																			MUC21	-	NULL	ENSG00000204544		0.562	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	382	0.00	0	C	NM_001010909		30955398	30955398	+1	no_errors	ENST00000376296	ensembl	human	known	69_37n	silent	188	21.01	50	SNP	1.000	A
NIN	51199	genome.wustl.edu	37	14	51228556	51228556	+	Silent	SNP	T	T	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr14:51228556T>C	ENST00000382041.3	-	16	2038	c.1848A>G	c.(1846-1848)gaA>gaG	p.E616E	NIN_ENST00000530997.2_Silent_p.E616E|NIN_ENST00000324330.9_Silent_p.E616E|NIN_ENST00000245441.5_Silent_p.E616E|NIN_ENST00000382043.4_Silent_p.E616E|NIN_ENST00000453196.1_Silent_p.E616E|NIN_ENST00000389868.3_Silent_p.E616E	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	616					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGATGTTGTTCTTTCATCT	0.448			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													324.0	276.0	292.0					14																	51228556		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1848A>G	14.37:g.51228556T>C			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	NULL	p.T107A	ENST00000382041.3	37	c.319	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265477	0.23136	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.48	-4.02	0.04034	.	.	.	.	.	T	0.66086	0.2754	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67597	-0.5630	4	.	.	.	-16.5307	16.359	0.83246	0.0:0.7599:0.0:0.2401	.	.	.	.	A	107	.	.	T	-	1	0	NIN	50298306	0.075000	0.21258	0.933000	0.37362	0.954000	0.61252	-0.997000	0.03705	-0.496000	0.06650	0.533000	0.62120	ACA	NIN	-	NULL	ENSG00000100503		0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	164	0.61	1	T	NM_182946		51228556	51228556	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530997	ensembl	human	putative	69_37n	missense	128	14.67	22	SNP	0.984	C
NIN	51199	genome.wustl.edu	37	14	51238049	51238049	+	Splice_Site	SNP	C	C	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr14:51238049C>A	ENST00000382041.3	-	10	1309		c.e10+1		NIN_ENST00000530997.2_Splice_Site|NIN_ENST00000324330.9_Splice_Site|NIN_ENST00000245441.5_Splice_Site|NIN_ENST00000382043.4_Splice_Site|NIN_ENST00000453196.1_Splice_Site|NIN_ENST00000389868.3_Splice_Site	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTCAACTCACAACAAATGCC	0.473			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													102.0	93.0	96.0					14																	51238049		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1118+1G>T	14.37:g.51238049C>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Splice_Site	SNP	-	e8+1	ENST00000382041.3	37	c.1118+1	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600002	0.87055	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7581	0.91839	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NIN	50307799	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.484000	0.81180	2.670000	0.90874	0.555000	0.69702	.	NIN	-	-	ENSG00000100503		0.473	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	293	0.00	0	C	NM_182946	Intron	51238049	51238049	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	splice_site	165	22.90	49	SNP	1.000	A
OBSL1	23363	genome.wustl.edu	37	2	220432023	220432023	+	Silent	SNP	G	G	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr2:220432023G>A	ENST00000404537.1	-	4	1865	c.1809C>T	c.(1807-1809)caC>caT	p.H603H	OBSL1_ENST00000373876.1_Silent_p.H603H|OBSL1_ENST00000289656.3_Silent_p.H190H|OBSL1_ENST00000603926.1_Silent_p.H603H|OBSL1_ENST00000373873.4_Silent_p.H603H|OBSL1_ENST00000265318.4_Silent_p.H603H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	603	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAACACCACGTGGGGACTAC	0.632																																						dbGAP											0													37.0	49.0	45.0					2																	220432023		2184	4273	6457	-	-	-	SO:0001819	synonymous_variant	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1809C>T	2.37:g.220432023G>A			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H603	ENST00000404537.1	37	c.1809	CCDS46520.1	2																																																																																			OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000124006		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	76	0.00	0	G			220432023	220432023	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	silent	47	17.54	10	SNP	0.833	A
OXR1	55074	genome.wustl.edu	37	8	107718659	107718659	+	Missense_Mutation	SNP	A	A	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr8:107718659A>C	ENST00000442977.2	+	8	1012	c.913A>C	c.(913-915)Aca>Cca	p.T305P	OXR1_ENST00000517566.2_Missense_Mutation_p.T304P|OXR1_ENST00000497705.1_Missense_Mutation_p.T237P|OXR1_ENST00000445937.1_Missense_Mutation_p.T304P|OXR1_ENST00000531443.1_Missense_Mutation_p.T304P|OXR1_ENST00000312046.6_Missense_Mutation_p.T297P|OXR1_ENST00000452423.2_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	305					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGAAAATGACAGGAAGTAA	0.373																																						dbGAP											0													77.0	79.0	78.0					8																	107718659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.913A>C	8.37:g.107718659A>C	ENSP00000405424:p.Thr305Pro		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.T305P	ENST00000442977.2	37	c.913	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.014|9.014	0.983239|0.983239	0.18889|0.18889	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.23552|.	2.73;2.73;2.74;2.74;1.9;2.72|.	5.98|5.98	0.344|0.344	0.16006|0.16006	.|.	0.717261|.	0.14523|.	N|.	0.314371|.	T|.	0.24967|.	0.0606|.	L|L	0.35723|0.35723	1.085|1.085	0.27802|0.27802	N|N	0.94246|0.94246	B;B;B;B;B|.	0.11235|.	0.0;0.001;0.001;0.004;0.0|.	B;B;B;B;B|.	0.11329|.	0.004;0.002;0.002;0.006;0.004|.	T|.	0.25012|.	-1.0144|.	10|.	0.27785|.	T|.	0.31|.	-30.1302|-30.1302	2.2446|2.2446	0.04028|0.04028	0.4063:0.1288:0.34:0.1249|0.4063:0.1288:0.34:0.1249	.|.	297;305;304;237;304|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.;.|.	P|C	304;304;304;305;237;297|17	ENSP00000402918:T304P;ENSP00000431966:T304P;ENSP00000429205:T304P;ENSP00000405424:T305P;ENSP00000431014:T237P;ENSP00000311026:T297P|.	ENSP00000311026:T297P|.	T|X	+|+	1|3	0|0	OXR1|OXR1	107787835|107787835	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.990000|0.990000	0.78478|0.78478	0.182000|0.182000	0.16900|0.16900	0.100000|0.100000	0.17581|0.17581	0.482000|0.482000	0.46254|0.46254	ACA|TGA	OXR1	-	NULL	ENSG00000164830		0.373	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		77	0.00	0	A	NM_181354		107718659	107718659	+1	no_errors	ENST00000442977	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	0.104	C
PDE4C	5143	genome.wustl.edu	37	19	18332958	18332958	+	Missense_Mutation	SNP	A	A	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr19:18332958A>T	ENST00000355502.3	-	6	1289	c.418T>A	c.(418-420)Tct>Act	p.S140T	PDE4C_ENST00000262805.12_Missense_Mutation_p.S108T|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000447275.3_Missense_Mutation_p.S34T|PDE4C_ENST00000594617.3_Missense_Mutation_p.S140T|PDE4C_ENST00000594465.3_Missense_Mutation_p.S140T|PDE4C_ENST00000539010.1_5'Flank			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	140					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGCCACAGAGGAGTTCCGA	0.587																																						dbGAP											0													57.0	50.0	52.0					19																	18332958		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.418T>A	19.37:g.18332958A>T	ENSP00000347689:p.Ser140Thr		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.S140T	ENST00000355502.3	37	c.418	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	A	28.9	4.961683	0.92791	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.78364	0.92;-1.17;-1.01	4.51	4.51	0.55191	.	0.060078	0.64402	N	0.000002	T	0.81697	0.4877	M	0.79926	2.475	0.80722	D	1	P;P;B	0.42620	0.697;0.785;0.292	B;P;B	0.45998	0.285;0.5;0.382	D	0.84672	0.0712	10	0.87932	D	0	.	12.7133	0.57102	1.0:0.0:0.0:0.0	.	249;140;108	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	T	219;140;128;108;34;249	ENSP00000347689:S140T;ENSP00000262805:S108T;ENSP00000402091:S34T	ENSP00000262805:S108T	S	-	1	0	PDE4C	18193958	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.657000	0.91106	1.685000	0.51034	0.397000	0.26171	TCT	PDE4C	-	NULL	ENSG00000105650		0.587	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	68	0.00	0	A			18332958	18332958	-1	no_errors	ENST00000355502	ensembl	human	known	69_37n	missense	51	21.21	14	SNP	1.000	T
PEAR1	375033	genome.wustl.edu	37	1	156874573	156874573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr1:156874573delC	ENST00000338302.3	+	4	360	c.135delC	c.(133-135)cgcfs	p.R45fs	PEAR1_ENST00000292357.7_Frame_Shift_Del_p.R45fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	45	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCACTCCCGCCCCTTCAGCC	0.662																																						dbGAP											0													64.0	68.0	66.0					1																	156874573		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.135delC	1.37:g.156874573delC	ENSP00000344465:p.Arg45fs		Q8TEK2	Frame_Shift_Del	DEL	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.F47fs	ENST00000338302.3	37	c.135	CCDS30892.1	1																																																																																			PEAR1	-	pfscan_EMI_domain	ENSG00000187800		0.662	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	128	0.00	0	C	NM_001080471		156874573	156874573	+1	no_errors	ENST00000292357	ensembl	human	known	69_37n	frame_shift_del	107	13.60	17	DEL	0.792	-
RPN1	6184	genome.wustl.edu	37	3	128369504	128369505	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr3:128369504_128369505insAA	ENST00000296255.3	-	1	187_188	c.139_140insTT	c.(139-141)gctfs	p.A47fs	RPN1_ENST00000497289.1_Intron	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	47					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CGTCACCTTAGCCAGGTGGCTG	0.693			T	EVI1	AML																																	dbGAP		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.139_140insTT	3.37:g.128369504_128369505insAA	ENSP00000296255:p.Ala47fs		B2R5Z0|D3DNB6|Q68DT1	Frame_Shift_Ins	INS	pfam_Ribophorin_I	p.A47fs	ENST00000296255.3	37	c.140_139	CCDS3051.1	3																																																																																			RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.693	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	19	0.00	0	-	NM_002950		128369504	128369505	-1	no_errors	ENST00000296255	ensembl	human	known	69_37n	frame_shift_ins	24	27.27	9	INS	1.000:1.000	AA
RPN1	6184	genome.wustl.edu	37	3	128369512	128369513	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr3:128369512_128369513delGC	ENST00000296255.3	-	1	179_180	c.131_132delGC	c.(130-132)agcfs	p.S44fs	RPN1_ENST00000497289.1_Intron	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	44					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAGCCAGGTGGCTGCTTAGGTC	0.678			T	EVI1	AML																																	dbGAP		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.131_132delGC	3.37:g.128369512_128369513delGC	ENSP00000296255:p.Ser44fs		B2R5Z0|D3DNB6|Q68DT1	Frame_Shift_Del	DEL	pfam_Ribophorin_I	p.S44fs	ENST00000296255.3	37	c.132_131	CCDS3051.1	3																																																																																			RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.678	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	16	0.00	0	GC	NM_002950		128369512	128369513	-1	no_errors	ENST00000296255	ensembl	human	known	69_37n	frame_shift_del	20	31.03	9	DEL	1.000:1.000	-
SOBP	55084	genome.wustl.edu	37	6	107908293	107908293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr6:107908293G>T	ENST00000317357.5	+	5	1242	c.583G>T	c.(583-585)Gaa>Taa	p.E195*		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTAGAGATGAAGATGGACA	0.373																																						dbGAP											0													168.0	157.0	161.0					6																	107908293		1839	4091	5930	-	-	-	SO:0001587	stop_gained	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.583G>T	6.37:g.107908293G>T	ENSP00000318900:p.Glu195*			Nonsense_Mutation	SNP	NULL	p.E195*	ENST00000317357.5	37	c.583	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.608238	0.99219	.	.	ENSG00000112320	ENST00000317357	.	.	.	5.96	5.96	0.96718	.	0.066682	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.8384	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	195	.	ENSP00000318900:E195X	E	+	1	0	SOBP	108014986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.601000	0.90864	2.832000	0.97577	0.655000	0.94253	GAA	SOBP	-	NULL	ENSG00000112320		0.373	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	142	0.00	0	G	NM_018013		107908293	107908293	+1	no_errors	ENST00000317357	ensembl	human	known	69_37n	nonsense	137	15.34	25	SNP	1.000	T
SON	6651	genome.wustl.edu	37	21	34922545	34922545	+	Silent	SNP	G	G	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr21:34922545G>T	ENST00000356577.4	+	3	1483	c.1008G>T	c.(1006-1008)gcG>gcT	p.A336A	SON_ENST00000381679.4_Silent_p.A336A|SON_ENST00000300278.4_Silent_p.A336A|SON_ENST00000290239.6_Silent_p.A336A|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	336					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAATTGAAGCGCTAAGATTGC	0.502											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													104.0	109.0	108.0					21																	34922545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1008G>T	21.37:g.34922545G>T		851	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.A336	ENST00000356577.4	37	c.1008	CCDS13629.1	21																																																																																			SON	-	NULL	ENSG00000159140		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	82	0.00	0	G	NM_138927		34922545	34922545	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	silent	30	26.19	11	SNP	0.715	T
SRBD1	55133	genome.wustl.edu	37	2	45812872	45812872	+	Silent	SNP	G	G	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr2:45812872G>A	ENST00000263736.4	-	5	752	c.690C>T	c.(688-690)gcC>gcT	p.A230A		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	230					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAATGATGTTGGCACAAACCC	0.313																																						dbGAP											0													101.0	106.0	104.0					2																	45812872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.690C>T	2.37:g.45812872G>A			Q53T56|Q96TA4|Q9NW11	Silent	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.A230	ENST00000263736.4	37	c.690	CCDS1823.1	2																																																																																			SRBD1	-	pfam_Tex-like_N	ENSG00000068784		0.313	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	191	0.00	0	G	NM_018079		45812872	45812872	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	silent	83	20.95	22	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52544472	52544472	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr3:52544472G>C	ENST00000321725.6	+	25	2812	c.2736G>C	c.(2734-2736)atG>atC	p.M912I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	912	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.		M -> V (in dbSNP:rs9835659). {ECO:0000269|PubMed:11829752, ECO:0000269|PubMed:12077138, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9039502}.		cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGGACATGAGAGGTGGCT	0.647																																						dbGAP											0													71.0	63.0	66.0					3																	52544472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2736G>C	3.37:g.52544472G>C	ENSP00000312946:p.Met912Ile		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.M912I	ENST00000321725.6	37	c.2736	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998600	0.19121	.	.	ENSG00000010327	ENST00000321725	D	0.84298	-1.83	5.86	-11.7	0.00046	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.834580	0.02768	N	0.119430	T	0.67116	0.2859	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53878	-0.8376	10	0.38643	T	0.18	.	3.1996	0.06645	0.1779:0.1778:0.5538:0.0905	.	912	Q9NY15	STAB1_HUMAN	I	912	ENSP00000312946:M912I	ENSP00000312946:M912I	M	+	3	0	STAB1	52519512	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.060000	0.00624	-2.221000	0.00728	-0.127000	0.14921	ATG	STAB1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000010327		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	34	0.00	0	G	NM_015136		52544472	52544472	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.000	C
SUPT7L	9913	genome.wustl.edu	37	2	27876562	27876562	+	Silent	SNP	C	C	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr2:27876562C>T	ENST00000337768.5	-	6	1604	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	SUPT7L_ENST00000405491.1_Silent_p.E343E|SUPT7L_ENST00000404798.2_Silent_p.E210E|SUPT7L_ENST00000464789.2_Silent_p.E343E|SUPT7L_ENST00000406540.1_Silent_p.E343E	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	345					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGAGGCTCCATTTTCA	0.488																																						dbGAP											0													181.0	178.0	179.0					2																	27876562		2019	4176	6195	-	-	-	SO:0001819	synonymous_variant	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1035G>A	2.37:g.27876562C>T			B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	pfam_BTP,smart_BTP	p.E345	ENST00000337768.5	37	c.1035	CCDS42667.1	2																																																																																			SUPT7L	-	NULL	ENSG00000119760		0.488	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	334	0.00	0	C	NM_014860		27876562	27876562	-1	no_errors	ENST00000337768	ensembl	human	known	69_37n	silent	208	24.64	68	SNP	1.000	T
SYNGR4	23546	genome.wustl.edu	37	19	48879441	48879441	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr19:48879441C>T	ENST00000344846.2	+	5	821	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	191						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GACCACCCTCCCCTTGCCCTC	0.592																																						dbGAP											0													168.0	131.0	144.0					19																	48879441		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.571C>T	19.37:g.48879441C>T	ENSP00000344041:p.Pro191Ser		Q3KP58	Missense_Mutation	SNP	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	p.P191S	ENST00000344846.2	37	c.571	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.763086	0.00651	.	.	ENSG00000105467	ENST00000344846	T	0.40476	1.03	5.51	3.26	0.37387	.	0.254647	0.40144	N	0.001164	T	0.12987	0.0315	N	0.01168	-0.975	0.24750	N	0.992985	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	10	0.14252	T	0.57	-19.0629	5.7902	0.18357	0.1476:0.0817:0.0:0.7707	.	191	O95473	SNG4_HUMAN	S	191	ENSP00000344041:P191S	ENSP00000344041:P191S	P	+	1	0	SYNGR4	53571253	0.930000	0.31532	0.995000	0.50966	0.064000	0.16182	2.755000	0.47540	0.433000	0.26313	-0.474000	0.04947	CCC	SYNGR4	-	pirsf_Synaptogyrin	ENSG00000105467		0.592	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	HGNC	protein_coding	OTTHUMT00000465704.1	107	0.00	0	C			48879441	48879441	+1	no_errors	ENST00000344846	ensembl	human	known	69_37n	missense	89	18.35	20	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7579355	7579355	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr17:7579355A>G	ENST00000269305.4	-	4	521	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TP53_ENST00000420246.2_Missense_Mutation_p.L111P|TP53_ENST00000359597.4_Missense_Mutation_p.L111P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.L111P|TP53_ENST00000413465.2_Missense_Mutation_p.L111P|TP53_ENST00000445888.2_Missense_Mutation_p.L111P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	111	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L111R(11)|p.0?(8)|p.L111Q(7)|p.L111P(6)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAGAAGCCCAGACGGAAACC	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	43	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(2)|Deletion - In frame(1)|Complex - frameshift(1)	lung(9)|upper_aerodigestive_tract(7)|liver(6)|large_intestine(5)|central_nervous_system(4)|bone(4)|breast(4)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|urinary_tract(1)	GRCh37	CX942126	TP53	X							64.0	60.0	61.0					17																	7579355		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.332T>C	17.37:g.7579355A>G	ENSP00000269305:p.Leu111Pro		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L111P	ENST00000269305.4	37	c.332	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915273	0.73098	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99760	0.9903	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.994;0.992;1.0;0.997;1.0;1.0;0.996	D	0.96946	0.9691	10	0.87932	D	0	-10.3745	12.5363	0.56144	1.0:0.0:0.0:0.0	.	72;111;111;111;111;111;111	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	111	ENSP00000410739:L111P;ENSP00000352610:L111P;ENSP00000269305:L111P;ENSP00000398846:L111P;ENSP00000391127:L111P;ENSP00000391478:L111P;ENSP00000424104:L111P;ENSP00000426252:L111P	ENSP00000269305:L111P	L	-	2	0	TP53	7520080	0.739000	0.28196	0.244000	0.24202	0.958000	0.62258	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	CTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	142	0.00	0	A	NM_000546		7579355	7579355	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	118	26.54	43	SNP	0.684	G
TMC6	11322	genome.wustl.edu	37	17	76109253	76109253	+	Silent	SNP	C	C	T			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr17:76109253C>T	ENST00000590602.1	-	20	2553	c.2394G>A	c.(2392-2394)ctG>ctA	p.L798L	TMC6_ENST00000392467.3_Silent_p.L798L|TNRC6C-AS1_ENST00000589217.1_RNA|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000591436.1_Silent_p.L377L|TMC6_ENST00000306591.7_Silent_p.L447L|TMC6_ENST00000322914.3_Silent_p.L798L|TMC6_ENST00000322933.4_Silent_p.L377L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	798					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CATCTGTGAGCAGGGCAGGGG	0.632											OREG0024775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													23.0	20.0	21.0					17																	76109253		2169	4257	6426	-	-	-	SO:0001819	synonymous_variant	0			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2394G>A	17.37:g.76109253C>T		1165	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.L798	ENST00000590602.1	37	c.2394	CCDS32748.1	17																																																																																			TMC6	-	NULL	ENSG00000141524		0.632	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	28	0.00	0	C			76109253	76109253	-1	no_errors	ENST00000322914	ensembl	human	known	69_37n	silent	14	21.05	4	SNP	0.000	T
TRPC4AP	26133	genome.wustl.edu	37	20	33623023	33623023	+	Silent	SNP	G	G	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr20:33623023G>A	ENST00000252015.2	-	8	1043	c.954C>T	c.(952-954)ttC>ttT	p.F318F	TRPC4AP_ENST00000451813.2_Silent_p.F318F|TRPC4AP_ENST00000539834.1_5'UTR|TRPC4AP_ENST00000432634.2_Silent_p.F279F			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	318	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACTCCTGAAGGAAGCTGGCTG	0.537																																						dbGAP											0													155.0	131.0	139.0					20																	33623023		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.954C>T	20.37:g.33623023G>A			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	pfam_DUF3689	p.F318	ENST00000252015.2	37	c.954	CCDS13246.1	20																																																																																			TRPC4AP	-	NULL	ENSG00000100991		0.537	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	155	0.00	0	G	NM_015638		33623023	33623023	-1	no_errors	ENST00000252015	ensembl	human	known	69_37n	silent	63	14.86	11	SNP	1.000	A
TSR1	55720	genome.wustl.edu	37	17	2236988	2236988	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr17:2236988T>C	ENST00000301364.5	-	6	2083	c.1004A>G	c.(1003-1005)gAt>gGt	p.D335G	TSR1_ENST00000576112.2_Missense_Mutation_p.D319G	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	335					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTCCATATCATCTACAGCATC	0.438																																						dbGAP											0													112.0	101.0	105.0					17																	2236988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1004A>G	17.37:g.2236988T>C	ENSP00000301364:p.Asp335Gly		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.D335G	ENST00000301364.5	37	c.1004	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648838	0.47362	.	.	ENSG00000167721	ENST00000301364	T	0.12672	2.66	5.98	-1.36	0.09085	.	1.300860	0.04861	N	0.444175	T	0.06508	0.0167	N	0.08118	0	0.19945	N	0.999948	B	0.02656	0.0	B	0.06405	0.002	T	0.37267	-0.9713	10	0.28530	T	0.3	0.3565	4.4562	0.11643	0.4438:0.0:0.2808:0.2754	.	335	Q2NL82	TSR1_HUMAN	G	335	ENSP00000301364:D335G	ENSP00000301364:D335G	D	-	2	0	TSR1	2183738	0.000000	0.05858	0.003000	0.11579	0.706000	0.40770	-0.337000	0.07852	0.011000	0.14865	-0.340000	0.08031	GAT	TSR1	-	NULL	ENSG00000167721		0.438	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	120	0.00	0	T	NM_018128		2236988	2236988	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	missense	102	13.56	16	SNP	0.001	C
UBA5	79876	genome.wustl.edu	37	3	132379431	132379431	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr3:132379431G>A	ENST00000356232.4	+	1	1122	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	UBA5_ENST00000494238.2_5'UTR|ACAD11_ENST00000489991.1_5'Flank|ACAD11_ENST00000481970.2_5'Flank|ACAD11_ENST00000264990.6_5'UTR|ACAD11_ENST00000545291.1_5'Flank|ACAD11_ENST00000355458.3_5'Flank|UBA5_ENST00000480955.1_3'UTR|UBA5_ENST00000473651.1_Missense_Mutation_p.R17Q|UBA5_ENST00000493720.2_Missense_Mutation_p.R17Q|UBA5_ENST00000264991.4_Intron	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	17					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAGCTGGAGCGGGAACTTGCC	0.711																																						dbGAP											0													19.0	23.0	22.0					3																	132379431		2101	4134	6235	-	-	-	SO:0001583	missense	0			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.50G>A	3.37:g.132379431G>A	ENSP00000348565:p.Arg17Gln		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.R17Q	ENST00000356232.4	37	c.50	CCDS3076.1	3	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585198	0.46110	.	.	ENSG00000081307	ENST00000356232;ENST00000493720;ENST00000473651	D;D;D	0.82081	-1.56;-1.57;-1.57	4.83	0.473	0.16763	.	0.498758	0.23100	N	0.051938	T	0.51822	0.1697	N	0.02011	-0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.19745	-1.0296	10	0.12430	T	0.62	0.1887	4.185	0.10393	0.4026:0.0:0.4208:0.1766	.	17;17	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	Q	17	ENSP00000348565:R17Q;ENSP00000417879:R17Q;ENSP00000424984:R17Q	ENSP00000348565:R17Q	R	+	2	0	UBA5	133862121	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	1.412000	0.34714	0.192000	0.20272	0.561000	0.74099	CGG	UBA5	-	NULL	ENSG00000081307		0.711	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	HGNC	protein_coding	OTTHUMT00000357187.2	59	0.00	0	G	NM_024818		132379431	132379431	+1	no_errors	ENST00000356232	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	0.994	A
USP42	84132	genome.wustl.edu	37	7	6196533	6196533	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr7:6196533T>G	ENST00000306177.5	+	16	3948	c.3790T>G	c.(3790-3792)Ttg>Gtg	p.L1264V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1264					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGTCACCAGCTTGGAGACTGT	0.498																																						dbGAP											0													41.0	45.0	44.0					7																	6196533		1899	4124	6023	-	-	-	SO:0001583	missense	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3790T>G	7.37:g.6196533T>G	ENSP00000301962:p.Leu1264Val		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.L1264V	ENST00000306177.5	37	c.3790	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285607	0.23478	.	.	ENSG00000106346	ENST00000306177	T	0.15139	2.45	5.65	2.03	0.26663	.	1.845310	0.02460	N	0.086476	T	0.10766	0.0263	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27732	0.118;0.187;0.118	B;B;B	0.21917	0.016;0.037;0.016	T	0.27434	-1.0074	10	0.18276	T	0.48	.	7.1672	0.25698	0.0:0.2745:0.0:0.7255	.	1160;1264;1264	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	V	1264	ENSP00000301962:L1264V	ENSP00000301962:L1264V	L	+	1	2	USP42	6163058	0.008000	0.16893	0.021000	0.16686	0.009000	0.06853	1.172000	0.31908	0.428000	0.26173	0.528000	0.53228	TTG	USP42	-	NULL	ENSG00000106346		0.498	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	135	0.00	0	T	XM_166526		6196533	6196533	+1	no_errors	ENST00000306177	ensembl	human	known	69_37n	missense	60	49.15	58	SNP	0.002	G
VILL	50853	genome.wustl.edu	37	3	38039624	38039625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr3:38039624_38039625insC	ENST00000283713.6	+	8	1074_1075	c.808_809insC	c.(808-810)accfs	p.T270fs	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Frame_Shift_Ins_p.T270fs			O15195	VILL_HUMAN	villin-like	270					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAGTTGGCGACCCCCCCACTG	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.815dupC	3.37:g.38039631_38039631dupC	ENSP00000283713:p.Thr270fs		A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.L273fs	ENST00000283713.6	37	c.808_809	CCDS2670.2	3																																																																																			VILL	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000136059		0.644	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	116	0.85	1	-	NM_015873		38039624	38039625	+1	no_errors	ENST00000283713	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	0.589:0.638	C
XIRP2	129446	genome.wustl.edu	37	2	168101657	168101657	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr2:168101657A>G	ENST00000409195.1	+	9	3844	c.3755A>G	c.(3754-3756)aAa>aGa	p.K1252R	XIRP2_ENST00000409273.1_Missense_Mutation_p.K1030R|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1252R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1077					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATAAGATAAAAGAAAGCCAA	0.333																																						dbGAP											0													111.0	107.0	109.0					2																	168101657		1835	4089	5924	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3755A>G	2.37:g.168101657A>G	ENSP00000386840:p.Lys1252Arg		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.K1252R	ENST00000409195.1	37	c.3755	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	12.03	1.814215	0.32053	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02863	4.13;4.13;4.13	5.63	5.63	0.86233	.	0.190492	0.48767	D	0.000172	T	0.11153	0.0272	M	0.63428	1.95	0.33621	D	0.604807	D;D;D	0.76494	0.996;0.999;0.996	P;D;P	0.71414	0.867;0.973;0.877	T	0.10660	-1.0620	10	0.39692	T	0.17	-29.781	11.3437	0.49548	0.8481:0.1518:0.0:0.0	.	1077;1077;1030	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	1252;1252;1030	ENSP00000386840:K1252R;ENSP00000295237:K1252R;ENSP00000387255:K1030R	ENSP00000295237:K1252R	K	+	2	0	XIRP2	167809903	1.000000	0.71417	0.998000	0.56505	0.684000	0.39900	2.318000	0.43779	2.152000	0.67230	0.460000	0.39030	AAA	XIRP2	-	NULL	ENSG00000163092		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	391	0.00	0	A	NM_152381		168101657	168101657	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	296	18.13	66	SNP	0.997	G
ZNF518B	85460	genome.wustl.edu	37	4	10447420	10447420	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr4:10447420T>A	ENST00000326756.3	-	3	971	c.533A>T	c.(532-534)cAg>cTg	p.Q178L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	178					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAAATGCCTCTGAAACTCTCC	0.398																																						dbGAP											0													128.0	129.0	129.0					4																	10447420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.533A>T	4.37:g.10447420T>A	ENSP00000317614:p.Gln178Leu		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q178L	ENST00000326756.3	37	c.533	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	T	33	5.217609	0.95104	.	.	ENSG00000178163	ENST00000326756	T	0.17854	2.25	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.35653	0.0939	L	0.45422	1.42	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	T	0.03221	-1.1059	10	0.72032	D	0.01	-20.7337	15.9872	0.80168	0.0:0.0:0.0:1.0	.	178	Q9C0D4	Z518B_HUMAN	L	178	ENSP00000317614:Q178L	ENSP00000317614:Q178L	Q	-	2	0	ZNF518B	10056518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	CAG	ZNF518B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178163		0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	121	0.00	0	T	NM_053042		10447420	10447420	-1	no_errors	ENST00000326756	ensembl	human	known	69_37n	missense	72	22.58	21	SNP	1.000	A
ZNF878	729747	genome.wustl.edu	37	19	12154855	12154855	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A04J-01A-02W-A050-09	TCGA-AQ-A04J-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	cce21f2b-784b-4fa0-9809-ae532c528f8e	a53132c6-21f2-4083-9b0b-5e927d63e199	g.chr19:12154855T>A	ENST00000547628.1	-	4	1498	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.K501M	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCCACATTGCTTACACTCATA	0.393																																						dbGAP											0													55.0	60.0	58.0					19																	12154855		2196	4297	6493	-	-	-	SO:0001583	missense	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1361A>T	19.37:g.12154855T>A	ENSP00000447931:p.Lys454Met			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.K454M	ENST00000547628.1	37	c.1361	CCDS45984.2	19	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731580	0.48939	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.08807	3.05	1.3	0.217	0.15264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13884	0.0336	L	0.60845	1.875	0.09310	N	1	D	0.60160	0.987	P	0.58130	0.833	T	0.23976	-1.0173	9	0.66056	D	0.02	.	0.0725	0.00024	0.2463:0.2008:0.2499:0.303	.	454	C9JN71	ZN878_HUMAN	M	454;501	ENSP00000447931:K454M	ENSP00000447931:K454M	K	-	2	0	AC022415.4;ZNF878	12015855	0.000000	0.05858	0.008000	0.14137	0.937000	0.57800	-1.949000	0.01532	0.567000	0.29293	0.260000	0.18958	AAG	ZNF878	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257446		0.393	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	111	0.00	0	T	NM_001080404		12154855	12154855	-1	no_errors	ENST00000547628	ensembl	human	novel	69_37n	missense	97	18.49	22	SNP	0.008	A
